Genetic Testing
Discover a wide range of tests that cater to your needs. We provide numerous solutions to safeguard your employees, clients and enterprise.
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| Unilabs Codes | Test Name | More |
|---|---|---|
| Unilabs Codes | Test Name | More |
| CYP21A2SEQ | 21-hydroxylase deficiency (seq. analysis of CYP21A2 gene) | More |
| HMGCL33GEN | 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency (S... | More |
| CUL7SEQ | 3-M syndrome 1 (sequence analysis of CUL7 gene) | More |
| MCCC1DEL | 3-Methylcrotonyl-COA Carboxylase 1 Deficiency (Deletion /... | More |
| MCCC1SEQ | 3-Methylcrotonyl-CoA carboxylase deficiency (sequence ana... | More |
| MCCC2GDEL | 3-Methylcrotonyl-CoA carboxylase deficiency type 2 (delet... | More |
| MCCC2G | 3-Methylcrotonyl-CoA Carboxylase Deficiency Type 2 (Seque... | More |
| OPA3T3SEQ | 3-methylglutaconic aciduria type 3 (sequence analysis of ... | More |
| AUHSEQ | 3-methylglutaconic aciduria type I (sequence analysis of ... | More |
| SRYCGDSEQ | 46,XY complete gonadal dysgenesis (sequence analysis of S... | More |
| SRYSEQUEN | 46XX Sex Reversal 1 (Sequence Analysis of SRY Gene) | More |
| SRD5A2SQ2D | 5-alpha-reductase 2 deficiency (sequence analysis of SRD5... | More |
| FGD1SEQ | Aarskog syndrome (sequence analysis of FGD1 gene) | More |
| COL2A1T2 | Achondrogenesis type 2 (sequence analysis of COL2A1 gene) | More |
| FGFR3 | Achondroplasia (Sequence Analysis of Exon 9 of FGFR3 Gene) | More |
| CNGA3SEQ | Achromatopsia 2 (sequence analysis of CNGA3 gene) | More |
| PDE6CSEQ | Achromatopsia 2 (sequence analysis of PDE6C gene) | More |
| CNGB3SEQ | Achromatopsia 3 (sequence analysis of CNGB3 gene) | More |
| GNAT2SEQ | Achromatopsia 4 (sequence analysis of GNAT2 gene) | More |
| KIF7SEQ | Acrocallosal syndrome (sequence analysis of KIF7 gene) | More |
| SLC39A4SEQ | Acrodermatitis enteropathica (sequence analysis of SLC39A... | More |
| SF3B4SEQ | Acrofacial Dysostosis 1, Nager type (Sequence Analysis of... | More |
| GDF5SEQ | Acromesomelic dysplasia, Hunter-Thompson type (sequence a... | More |
| NPR2SEQ | Acromesomelic dysplasia, Maroteaux type (sequence analysi... | More |
| FBN1SEQ | Acromicric dysplasia (sequence analysis of FBN1 gene) | More |
| AMLGATA1 | Acute megakaryoblastic leukemia and transient myeloprolif... | More |
| GATA1SMSO | Acute megakaryoblastic leukemia and transient myeloprolif... | More |
| KMT2AMUT | Acute myelogenous leukemia (detection of mutations PTD on... | More |
| FLT3SEQGEN | Acute Myeloid Leukemia (AML, Sequence Analysis Of FLT3 Gene) | More |
| CEBPASOM | Acute myeloid leukemia (det. of som. mutations of CEBPA G... | More |
| NGS9APORP | Acute porphyria (NGS panel of 9 genes) | More |
| ACADMACYL | Acyl-CoA dehydrogenase, medium chain deficiency (c.985A>G... | More |
| ACADMSEQ | Acyl-CoA medium-chain dehydrogenase deficiency (sequence ... | More |
| CHST14SEQ | Adducted thumb-clubfoot syndrome sequence analysis of CHS... | More |
| PORSEQ | Adrenal hyperplasia due to cytochrome P450 oxidoreductase... | More |
| ABCD1SEQ | Adrenoleukodystrophy (sequence analysis of ABCD1 gene) | More |
| BTKSEQ | Agammaglobulinemia, X-Linked (sequence analysis of BTK gene) | More |
| NGS7AGS | Aicardi-Goutieres syndrome (NGS panel for 7 genes) | More |
| TREX1SEQ | Aicardi-Goutieres syndrome 1 (sequence analysis of TREX1 ... | More |
| JAG1DEL | Alagille syndrome (deletion/duplication analysis of JAG1 ... | More |
| JAG1SEQ | Alagille syndrome (sequence analysis of JAG1 gene) | More |
| NOTCH2SEQ | Alagille syndrome 2 (sequence analysis of NOTCH2 gene) | More |
| NGS12ALBIN | Albinism (NGS panel for 12 genes) | More |
| OCA2TYRDEL | Albinism Oculocutaneous (Deletion/Duplication Analysis on... | More |
| TYRSEQ | Albinism oculocutaneous type I (sequence analysis of TYR ... | More |
| GFAPSEQ | Alexander disease (sequence analysis of GFAP gene) | More |
| HGDSEQ | Alkaptonuria (sequence analysis of HGD gene) | More |
| ALPDELGSO | Alpha Thalassemia (HBA1 and HBA2 Deletion/Duplication) | More |
| ATHB | Alpha Thalassemia (HBA1 and HBA2 Sequencing) | More |
| ATHB12 | Alpha -Thalassemia (sequence Analysis Of HbA1 And HbA2 Ge... | More |
| SERPIN1SEQ | Alpha-1 antitrypsin deficiency (sequence analysis of SERPINA | More |
| ACAT1SEQ | Alpha-methylacetoacetic aciduria (sequence analysis of AC... | More |
| COL4A5DEL | Alport syndrome (deletion/duplication analysis on COL4A5 ... | More |
| NGS3ALPS | Alport syndrome (NGS panel for 3 genes) | More |
| COL4A3SEQ | Alport syndrome (sequence analysis of COL4A3 gene) | More |
| COL4A4SEQ | Alport Syndrome (sequence analysis of COL4A4 gene) | More |
| COL4A5SEQ | Alport syndrome (sequence analysis of COL4A5 gene) | More |
| ALMS1SEQ | Alstrom syndrome (sequence analysis of ALMS1 gene) | More |
| ALMS81016S | Alstrom syndrome (sequence analysis of exons 8, 10 and 16... | More |
| ATP1A3SEQ | Alternating hemiplegia of childhood 2 (sequence analysis ... | More |
| ALZDT2 | Alzheimer disease type 2 | Thrombophilia (genotyping of a... | More |
| ADPCGC | Alzheimer´s Disease Panel - Genetic Testing | More |
| SOD1SEQ1 | Amyotrophic lateral sclerosis 1 (sequence analysis of SOD... | More |
| TARDBPSEQ | Amyotrophic lateral sclerosis 10 (sequence analysis of TA... | More |
| ARDELET | Androgen insensitivity syndrome (deletion/duplication ana... | More |
| ARSEQAIS | Androgen insensitivity syndrome (sequence analysis of AR ... | More |
| SEC23BSQT2 | Anemia dyserythropoietic type 2 (sequence analysis of SEC... | More |
| ANEMPCGC | Anemia Panel - Genetic Testing | More |
| ANGSDELET | Angelman syndrome (deletion/duplication analysis on UBE3A... | More |
| UBE3AAS | Angelman Syndrome (Sequence Analysis of UBE3A Gene) | More |
| EDARSEQ | Anhidrotic ectodermal dysplasia (sequence analysis of EDA... | More |
| EDARADDSEQ | Anhidrotic ectodermal dysplasia (sequence analysis of EDA... | More |
| PAX6DEL | Aniridia (deletion/duplication analysis of PAX6 gene) | More |
| ANTIDEPPSY | Antidepressants and antipsychotics pharmacogenetics | More |
| SERPINC1SE | Antithrombin III Deficiency (sequence Analysis Of SERPINC... | More |
| MYLKSEQ | Aortic aneurysm, familial thoracic 7 (sequence analysis o... | More |
| NOTCH1SEQ | Aortic valve disease 1 (sequence analysis of NOTCH1 gene) | More |
| FGFR2SEQ | Apert syndrome (sequence analysis of FGFR2 gene) | More |
| IFNGSEQ | Aplastic anemia (sequence analysis of IFNG gene) | More |
| APOC2SEQ | Apolipoprotein C-II deficiency (sequence analysis of APOC... | More |
| APOESEQ | Apolipoprotein E deficiency (sequence analysis of APOE gene) | More |
| HSD11B2SEQ | Apparent mineralocorticoid excess (sequence analysis of H... | More |
| ARG1SEQ | Arginase deficiency (sequence analysis of ARG1 gene) | More |
| GATMSEQ | Arginine:glycine amidinotransferase deficiency (sequence ... | More |
| ASLDELET | Argininosuccinate Lyase Deficiency (Deletion/Duplication ... | More |
| ASLGENE | Argininosuccinate Lyase Deficiency (Sequence Analysis of ... | More |
| CYP19A1SEQ | Aromatase deficiency (sequence analysis of CYP19A1) | More |
| APCGC | Arrhythmia Panel - Genetic Testing | More |
| PKP2SEQ9 | Arrhythmogenic right ventricular dysplasia 9 (sequence an... | More |
| SLC2A10SEQ | Arterial tortuosity syndrome (sequence analysis of SLC2A1... | More |
| ARTHRONGS | Arthrogryposis (NGS Panel For 49 Genes) | More |
| TPM2SEQ | Arthrogryposis, distal type 1 (sequence analysis of TPM2 ... | More |
| TNNI2SQ2B | Arthrogryposis, distal type 2B (sequence analysis of TNNI... | More |
| WISP3SEQ | Arthropathy, progressive pseudorheumatoid of childhood (s... | More |
| DYNC2H1SEQ | Asphyxiating thoracic dystrophy 3 (sequence analysis of D... | More |
| TTC21BSEQ | Asphyxiating thoracic dystrophy 4 (sequence analysis of T... | More |
| WDR19SEQ | Asphyxiating thoracic dystrophy 5 (sequence analysis of W... | More |
| ATMSEQ | Ataxia telangiectasia (sequence analysis of ATM gene) | More |
| TTPASQVE | Ataxia with isolated vitamin E deficiency (sequence analy... | More |
| APTXSQAOA | Ataxia with oculomotor apraxia (sequence analysis of APTX... | More |
| ATMDEL | Ataxia-telangiectasia (deletion/duplication analysis on ATM | More |
| GJA5FAM11 | Atrial fibrillation, familial 11 (sequence analysis of GJ... | More |
| NKX25SEQ | Atrial septal defect 7, with or without AV conduction def... | More |
| GATA6SEQ | Atrial septal defect 9 (sequence analysis of GATA6 gene) | More |
| GJA1DEL | Atrioventricular septal defect 3 | Craniometaphyseal dysp... | More |
| AHUSNGS | Atypical Hemolytic Uremic Syndrome (NGS Panel Of 14 Genes) | More |
| CFBSEQ | Atypical hemolytic uremic syndrome 4 (sequence analysis o... | More |
| CFISEQ | Atypical hemolytic-uremic syndrome (sequence analysis of ... | More |
| DGKESEQ | Atypical hemolytic-uremic syndrome (sequence analysis of ... | More |
| IL12BSEQ | Atypical mycobacteriosis, susceptibility to (sequence ana... | More |
| NTNG1SEQ | Atypical Rett syndrome (sequence analysis of NTNG1 gene) | More |
| DIAPH3SEQ | Auditory neuropathy 1 AD (sequence analysis of DIAPH3 gene) | More |
| ASDPCGC | Autism Spectrum Disorders Panel - Genetic Testing | More |
| FASSEQ | Autoimmune lymphoproliferative syndrome (sequence analysi... | More |
| FASLGSEQ | Autoimmune lymphoproliferative syndrome (sequence analysi... | More |
| CASP10SEQ | Autoimmune lymphoproliferative syndrome type II (sequence... | More |
| AIRESEQ | Autoimmune polyendocrinopathy syndrome (sequence analysis... | More |
| PSMB8SEQ | Autoinflammation, lipodystrophy and dermatosis syndrome (... | More |
| TTC7ADEL | Autosomal recessive early-onset IBD (deletions/ duplicat... | More |
| TTC7ASEQ | Autosomal recessive early-onset inflammatory bowel diseas... | More |
| DOCK8SEQ | Autosomal recessive hyper IgE syndrome (sequencing analys... | More |
| DMP1SEQ | Autosomal recessive hypophosphatemic rickets (sequence an... | More |
| FOXC1SEQ | Axenfeld-Rieger syndrome (sequence analysis of FOXC1 gene) | More |
| IGHBCELLS | B Cells (IGH) Clonal Rearrangement | More |
| ACTBSEQ | Baraitser-Winter syndrome 1 (sequence analysis of ACTB gene) | More |
| BBS1SEQ | Bardet-Biedl syndrome (sequence analysis of BBS1 gene) | More |
| BBS10SEQ | Bardet-Biedl syndrome 10 (sequence analysis of BBS10 gene) | More |
| BBS12SEQ | Bardet-Biedl syndrome 12 (sequence analysis of BBS12 gene) | More |
| LZTFL1SEQ | Bardet-Biedl syndrome 17 (sequence analysis of LZTFL1 gene) | More |
| BBS4SEQ | Bardet-Biedl syndrome 4 (sequence analysis of BBS4 gene) | More |
| BBS7SEQ | Bardet-Biedl syndrome 7 (sequence analysis of BBS7 gene) | More |
| BBS9SEQ | Bardet-Biedl syndrome 9 (sequence analysis of BBS9 gene) | More |
| BBS2SEQ | Bardet-Biedl syndrome type 2 (sequence analysis of BBS2 g... | More |
| BBS5SEQ | Bardet-Biedl syndrome type 5 (sequence analysis of BBS5 g... | More |
| MKKSSEQ | Bardet-Bield Syndrome Type 6 (Sequence Analysis of MKKS G... | More |
| TAZSEQ | Barth syndrome (sequence analysis of TAZ gene) | More |
| SLC12A1SEQ | Bartter syndrome type 1 (sequence analysis of SLC12A1 gene) | More |
| KCNJ1SEQ | Bartter syndrome type 2 (sequence analysis of KCNJ1 gene) | More |
| BSNDSEQ | Bartter syndrome type 4 (sequence analysis of BSND gene) | More |
| SLC20A2SA | Basal ganglia calcification, idiopathic 1 (sequence analy... | More |
| P190BCRABL | BCR/ABL (P190) Quantification | More |
| BCRP120GEN | BCR/ABL (p210) Quantification | More |
| DMDGEN | Becker/Duchenne Muscular Dystrophy (DMD, Deletion/duplica... | More |
| BWSGEN | Beckwith-Wiedemann Syndrome (methylation And Deletion/dup... | More |
| CDKN1CSEQ | Beckwith-Wiedemann Syndrome (Sequence Analysis of CDKN1C ... | More |
| SCN2ASEQ | Benign familial neonatal-infantile seizures-3 (sequence a... | More |
| GP1BASEQA | Bernard-Soulier syndrome (sequence analysis of GP1BA gene) | More |
| GP1BBSEQG | Bernard-Soulier syndrome (sequence analysis of GP1BB gene) | More |
| GP9BSS | Bernard-Soulier syndrome (sequence analysis of GP9 gene) | More |
| BTHBB | Beta Thalassemia (Sequence Analysis Of Hbb Gene) | More |
| BTHALDDGEN | Beta-thalassemia (deletion/duplication Analysis Of HBB Gene) | More |
| BTDDELGENE | Biotinidase Deficiency (deletion/duplication Analysis Of ... | More |
| BIOTINGENE | Biotinidase Deficiency (sequence Analysis Of BTD Gene) | More |
| SLC19A3GEN | Biotin-responsive Basal Ganglia Disease (sequence Analysi... | More |
| FLCNSEQ | Birt-Hogg-Dube syndrome (sequence analysis of FLCN gene) | More |
| BCS1LSEQ | Bjornstad Syndrome (sequence analysis of gene BCS1L) | More |
| NOD2SEQGEN | Blau syndrome|Inflammatory bowel disease (sequence analys... | More |
| BDPCGC | Bleeding Disorders Panel - Genetic Testing | More |
| BLMSEQBS | Bloom syndrome (sequence analysis of BLM gene) | More |
| ASXL1SEQ | Bohring-Opitz syndrome (sequence analysis of ASXL1 gene) | More |
| BMFSPCGC | Bone Marrow Failure Syndrome Panel - Genetic Testing | More |
| PHF6SEQ | Borjeson-Forssman-Lehmann syndrome (sequence analysis of ... | More |
| FOXL2SQ12 | BPES 1 and 2, sequence analysis of FOXL2 gene | More |
| EYA1SEQ | Branchiootorenal syndrome 1 (sequence analysis of EYA1 gene) | More |
| SIX5SEQ | Branchiootorenal syndrome 2 (sequence analysis of SIX5 gene) | More |
| PALB2SEQ | Breast cancer (sequence analysis of PALB2 gene) | More |
| ZNF469SEQ | Brittle cornea syndrome (sequence analysis of ZNF469 gene) | More |
| T2SCNN1A | Bronchiectasis Type 2 (Sequence Analysis of SCNN1A Gene) | More |
| SCNN1AGENE | Bronchiectasis With Or Without Elevated sweat chloride ty... | More |
| SLC52A3SEQ | Brown-Vialetto-Van Laere syndrome 1 (sequence analysis of... | More |
| PLOD2SEQ | Bruck syndrome 2 (BRKS2, sequence analysis of PLOD2 gene) | More |
| SCN5ASEQ | Brugada syndrome 1 (sequence analysis of SCN5A gene) | More |
| KCNE3GENE | Brugada syndrome 6 (sequence analysis of KCNE3 gene) | More |
| BCHEDELGEN | Butyrylcholinesterase deficiency (deletion/duplication an... | More |
| BCHEGENSQ | Butyrylcholinesterase deficiency (sequence analysis of BCHE | More |
| CADASILDEL | CADASIL (deletion/duplication analysis of NOTCH3 gene) | More |
| NOTCADSO | CADASIL (sequence analysis of exons 2-6 and 11 of NOTCH3 gen | More |
| NOTCH3SQG | CADASIL Myofibromatosis, Infantile 2 | Lateral Meningocel... | More |
| SOX9DELET | Campomelic dysplasia (deletion/duplication analysis on SO... | More |
| SOX9SEQ | Campomelic dysplasia (sequence analysis of SOX9 gene) | More |
| CAED | Camurati-Engelmann Disease (sequence Analysis TGFB1 Of Gene) | More |
| ASPASEQ | Canavan disease (sequence analysis of ASPA gene) | More |
| CPS1SEQ | Carbamoylphosphate synthetase I deficiency (sequence anal... | More |
| SCO2COD1 | Cardioencephalomyopathy, fatal infantile, due to cytochro... | More |
| MAP2K1SEQ | Cardiofaciocutaneous syndrome (sequence analysis of MAP2K... | More |
| CMPCGC | Cardiomyopathies Panel - Genetic Testing | More |
| MYBPC3GENE | Cardiomyopathy Hypertrophic (sequence Analysis Of MYBPC3 ... | More |
| TNNT2SEQ | Cardiomyopathy, dilated 1D (sequence analysis of TNNT2 gene) | More |
| PLN1GENE | Cardiomyopathy, dilated 1P (sequence analysis of PLN gene) | More |
| MYLKCARDIO | Cardiomyopathy, Hypertrophic, Midventricular, digenic (se... | More |
| CCPCGC | Cardiovascular Comprehensive Panel - Genetic Testing | More |
| PRKAR1ASEQ | Carney complex | Acrodysostosis | Myxoma, intracardiac | ... | More |
| SLC22A5DEL | Carnitine deficiency, systemic primary (deletion/duplicat... | More |
| SLC22A5GEN | Carnitine Deficiency, Systemic Primary (sequence analysis... | More |
| CPT1ASEQ | Carnitine palmitoyltransferase IA deficiency (sequence an... | More |
| CPT2SEQ | Carnitine palmitoyltransferase II deficiency (sequence an... | More |
| MEGF8SEQGE | Carpenter syndrome type 2 (sequence analysis of MEGF8 gene) | More |
| DSPSEQ | Carvajal syndrome (sequence analysis of DSP gene) | More |
| CRYBB1SEQ | Cataract 17, multiple types (sequence analysis of CRYBB1 ... | More |
| CRYAASEQ | Cataract 9, multiple types (sequence analysis of CRYAA gene) | More |
| CPCGC | Cataract Panel - Genetic Testing | More |
| VANGL1SQCR | Caudal regression syndrome (sequence analysis of VANGL1 g... | More |
| CAV3SEQ | Caveolinopathies (sequence analysis of CAV3 gene) | More |
| RYR1DEL | Central core myopathy (deletion/duplication analysis on R... | More |
| BDNFGENE | Central hypoventilation syndrome (sequence analysis of BD... | More |
| GDNFGENE | Central hypoventilation syndrome (sequence analysis of GD... | More |
| MTM1SEQ | Centronuclear myopathy (sequence analysis of MTM1 gene) | More |
| NM2SEQ | Centronuclear myopathy, AD (sequence analysis of DNM2 gene) | More |
| CCM2SEQ | Cerebral cavernous malformations (sequence analysis of CC... | More |
| PDCD10SEQ | Cerebral cavernous malformations type 3 (sequence analysi... | More |
| C1363CMUT | Cerebral cavernous malformations, hereditary (c.1363C >T ... | More |
| KRIT1C1363 | Cerebral cavernous malformations, hereditary (c.1363C >T ... | More |
| KRIT1SEQ | Cerebral cavernous malformations, hereditary (sequence an... | More |
| ERCC1SEQ | Cerebrooculofacioskeletal syndrome 4 (sequence analysis ... | More |
| CYP27A1SEQ | Cerebrotendinous xanthomatosis (sequence analysis of CYP2... | More |
| CFBFMYH11Q | CFBF/MYH11 quantification | More |
| ABHD5SEQ | Chanarin-Dorfman syndrome (sequence analysis of ABHD5 gene) | More |
| CMT43NGS | Charcot-Marie-Tooth disease (NGS panel for 43 genes) | More |
| MPZSEQ | Charcot-Marie-Tooth Disease type 1B/2I/2J (CMT1B/2I/2J, s... | More |
| EGR2SEQ | Charcot-Marie-Tooth disease type 1D (CMT1D, sequence anal... | More |
| MFN2SEQ | Charcot-Marie-Tooth disease type 2A2 (CMT2A2, sequence an... | More |
| CMT2K4ASEQ | Charcot-Marie-Tooth disease type 2K/4A (CMT2K/4A, sequenc... | More |
| CMT4B1SEQ | Charcot-Marie-Tooth disease type 4B1 (CMT4B1, sequence an... | More |
| PRXSEQ | Charcot-Marie-Tooth disease type 4F (CMT4F, sequence anal... | More |
| CMT4HDEL | Charcot-Marie-Tooth disease type 4H (CMT4H, deletion/dupl... | More |
| CMT4HSEQ | Charcot-Marie-Tooth disease type 4H (CMT4H, sequence anal... | More |
| PRPS1SEQT5 | Charcot-Marie-Tooth disease, X-linked, type 5 (CMTX5, seq... | More |
| CHD7DEL | CHARGE syndrome (deletion/duplication analysis on CHD7 gene) | More |
| CHD7SEQA | CHARGE syndrome (sequence analysis of CHD7 gene) | More |
| LYSTSEQ | Chediak-Higashi syndrome (sequence analysis of LYST gene) | More |
| SH3BP2 | Cherubism (sequence analysis of exon 9 of SH3BP2 gene) | More |
| NSDHLSEQ | CHILD syndrome (sequence analysis of NSDHL gene) | More |
| ARSESEQ | Chondrodysplasia punctata, brachytelephalangic, X-linked ... | More |
| EBPSQXLD | Chondrodysplasia punctata, X-linked dominant (sequence an... | More |
| CHMSEQ | Choroideremia (sequence analysis of CHM gene) | More |
| CHAB | Chromosomal Analysis (Karyotyping) | More |
| CAPC | Chromosomal Analysis (Products Of Conception) Karyotyping | More |
| CACV | Chromosomal Analysis Chorionic Villi | More |
| ACGHAF | Chromosomal Microarray Analysis (aCGH, Cytoscan 750K) | More |
| ACGHPREN | Chromosomal microarray analysis (aCGH, Cytoscan 750K), pr... | More |
| CHR14UNID | Chromosome 14 uniparental disomy (MS-MLPA) | More |
| CHROAM | Chromosome Analysis Of Amniotic fluid | More |
| CHROMNSC | Chromosome Analysis Of Non-Stimulated Cultures (Bone Marrow) | More |
| CHROMFB | Chromosome Analysis of Stimulated Cultures (Fetal Blood) | More |
| CHROMBRANA | Chromosome Breakage Analysis | More |
| CYBBSEQ | Chronic granulomatous disease (sequence analysis of CYBB ... | More |
| NCF2GENE | Chronic Granulomatous Disease (sequence Analysis Of NCF2 ... | More |
| DNAI1SEQ | Ciliary dyskinesia, primary 1 (sequence analysis of DNAI1... | More |
| NME8SEQ | Ciliary dyskinesia, primary 6 (sequence analysis of NME8 ... | More |
| CPPCGC | Ciliopathies Panel - Genetic Testing | More |
| ASS1SEQGEN | Citrullinemia (Sequence Analysis Of ASS1 Gene) | More |
| SLC25A13SE | Citrullinemia type II (sequence analysis of SLC25A13 gene) | More |
| RUNXCBFASQ | Cleidocranial dysplasia (sequence analysis of RUNX2/CBFA ... | More |
| ERCC8SEQ | Cockayne syndrome A (sequence analysis of ERCC8 gene) | More |
| ERCC6SEQ | Cockayne syndrome B (sequence analysis of ERCC6 gene) | More |
| NGS8CQ10 | Coenzyme Q10 deficiency (NGS panel for 8 genes) | More |
| VPS13BDEL | Cohen syndrome (deletion/duplication analysis on VPS13B/C... | More |
| VPS13BSEQ | Cohen syndrome (sequence analysis of VPS13B gene) | More |
| CRCP | Colorectal Cancer Panel - Genetic Testing | More |
| RAG2SQGR | Combined cellular and humoral immune defects with granulo... | More |
| MITOCGENS | Complete Mitochondrial DNA Sequencing | More |
| CRDNGS | Cone Rod Dystrophy (NGS Panel Of 36 Genes) | More |
| AIPL1SEQ | Cone-rod dystrophy (sequence analysis of AIPL1 gene) | More |
| UNC119SEQ | Cone-rod dystrophy (sequence analysis of UNC119 gene) | More |
| GUCA1ASEQ | Cone-rod dystrophy 14 (sequence analysis of GUCA1A gene) | More |
| RIMS1SEQ | Cone-rod dystrophy 7 (sequence analysis of RIMS1 gene) | More |
| T1CDAN1 | Cong. Dyserythropoietic Anemia Type I (CDAN 1 Gene Sequence) | More |
| DAXNR0BSEQ | Congenital adrenal hypoplasia (sequence analysis of DAX1/... | More |
| CATMPL | Congenital amegakaryocytic thrombocytopenia (sequence analys | More |
| PHOX2BPARM | Congenital central hypoventilation syndrome (frequent mut... | More |
| PHOX2BGEN | Congenital Central Hypoventilation Syndrome (Ondine Curse... | More |
| CONDEFDEL | Congenital deafness (deletion/duplication analysis of GJB... | More |
| GJB2SEQ | Congenital deafness (sequence analysis of GJB2 gene) | More |
| GJB3SEQ | Congenital deafness (sequence analysis of GJB3 gene) | More |
| GJB6SEQ | Congenital Deafness (Sequence Analysis of GJB6 Gene) | More |
| PMM2SEQ | Congenital disorder of glycosylation type Ia (sequence an... | More |
| MPISEQ | Congenital disorder of glycosylation type Ib (sequence an... | More |
| NGS39CDG | Congenital disorders of glycosylation (NGS panel for 39 g... | More |
| CDAN1SEQ | Congenital dyserythropoietic anemia type I (sequence anal... | More |
| CYP1B1GSO | Congenital Glaucoma (Sequence Analysis CYP1B1 Gene) | More |
| CHDPCGC | Congenital Heart Defects Panel - Genetic Testing | More |
| LCTSEQCD | Congenital lactase deficiency (sequence analysis of LCT g... | More |
| AGPAT2SEQ | Congenital lipodystrophy type 1 (sequence analysis of AGP... | More |
| NEUROG3SEQ | Congenital malabsorptive diarrhea due to absent enteroend... | More |
| NGS31CMD | Congenital muscular dystrophies (NGS panel of 31 genes) | More |
| COLQSEQ | Congenital myasthenic syndrome (sequence analysis of COLQ... | More |
| SPINT2SEQ | Congenital sodium diarrhea (sequence analysis of SPINT2 g... | More |
| TSC2PKD1DL | Contiguous TSC2/PKD1 deletion syndrome | More |
| FBN2SQCAR | Contractural arachnodactyly, congenital (sequence analysi... | More |
| CPOXSEQ | Coproporphyria (sequence analysis of CPOX gene) | More |
| KERACORNP2 | Cornea plana 2, autosomal recessive (sequence analysis of... | More |
| SLC4A11SEQ | Corneal endothelial dystrophy 2, AR (sequence analysis of... | More |
| NIPBLDELET | Cornelia de Lange syndrome (deletion/duplication analysis... | More |
| NGS5CDLS | Cornelia de Lange syndrome (NGS panel of 5 genes) | More |
| NIPBLSEQ | Cornelia De Lange Syndrome (Sequence Analysis of NIPBL Gene) | More |
| SMC1ASQL2 | Cornelia de Lange syndrome 2 (sequence analysis of SMC1A ... | More |
| HRASSEQ | Costello syndrome (sequence analysis of HRAS gene) | More |
| PTENCSSEQ | Cowden syndrome (sequence analysis of PTEN gene) | More |
| PTENDEL | Cowden syndrome 1 (deletion/duplication analysis on PTEN ... | More |
| IFT122SEQ | Cranioectodermal dysplasia (sequence analysis of IFT122 g... | More |
| MASP1SEQ | Craniofacial-ulnar-renal syndrome (sequence analysis of M... | More |
| NGSW69CRAN | Craniosynostosis (WES based NGS panel of 69 genes) | More |
| TWIST1SEQ | Craniosynostosis 1 |Robinow-Sorauf syndrome | Saethre-Cho... | More |
| MSX2SEQ | Craniosynostosis type 2 (sequence analysis of MSX2 gene) | More |
| SLC6A8SEQ | Creatine deficiency syndrome (sequence analysis of SLC6A8... | More |
| PRNPSEQ | Creutzfeldt-Jakob disease (sequence analysis of PRNP gene) | More |
| UGT1A1 | Crigler Najjar syndrome types 1 and 2 (sequence analysis ... | More |
| CRZSYN | Crouzon syndrome (sequence analysis of FGFR2 gene) | More |
| INSL3SEQ | Cryptorchidism (sequence analyis of INSL3 gene) | More |
| CDK4SEQ | Cutaneous malignant melanoma (sequence analysis of CDK4 g... | More |
| EFEMP2SEQ | Cutis laxa recessive type I (sequence analysis of EFEMP2 gen | More |
| ELANEDEL | Cyclic Neutropenia (deletion/duplication of ELANE gene) | More |
| CFTRDELGEN | Cystic Fibrosis (Deletion/Duplication Analysis of CFTR Gene) | More |
| CFGENE | Cystic Fibrosis (F508Del Mutation Of CFTR Gene) | More |
| CFTRFREQ | Cystic Fibrosis (Frequent Mutations Of CFTR Gene) | More |
| CFTRSEQ | Cystic Fibrosis (Sequence Analysis of CFTR gene) | More |
| CTNSSEQ | Cystinosis (sequence analysis of CTNS gene) | More |
| SLC3A1SEQ | Cystinuria (sequence analysis of SLC3A1 gene) | More |
| SLC7A9SEQ | Cystinuria (sequence analysis of SLC7A9 gene) | More |
| ATP2A2SEQ | Darier disease (sequence analysis of ATP2A2 gene) | More |
| MTRNR1 | Deafness nonsyndromic sensorineural mitochondrial (sequen... | More |
| TECTASEQ | Deafness, autosomal dominant 12 (sequence analysis of TEC... | More |
| COL11A2SEQ | Deafness, autosomal dominant 13 (sequence analysis of COL... | More |
| MYO6SEQ | Deafness, autosomal dominant 22 (sequence analysis of MYO... | More |
| SIX1GENE | Deafness, autosomal dominant 23 (sequence analysis of SIX1 g | More |
| MYH14SEQ | Deafness, autosomal dominant 4 (sequence analysis of MYH14 g | More |
| CRYMSEQ | Deafness, autosomal dominant 40 (sequence analysis of CRYM g | More |
| MIR96GENE | Deafness, autosomal dominant 50 (sequence analysis of MIR96 | More |
| COCHSEQ | Deafness, autosomal dominant 9 (sequence analysis of COCH ge | More |
| OTOASEQ | Deafness, autosomal recessive 22 (sequence analysis of OTOA | More |
| PCDH15SEQ | Deafness, autosomal recessive 23 (sequence analysis of PCDH1 | More |
| TRIOBPSEQ | Deafness, autosomal recessive 28 (sequence analysis of TR... | More |
| MYO15ASEQ | Deafness, autosomal recessive 3 (sequence analysis of MYO... | More |
| MYO3ASEQ | Deafness, autosomal recessive 30 (sequence analysis of MY... | More |
| DFNB31SEQ | Deafness, autosomal recessive 31 (sequence analysis of DF... | More |
| ESPNSEQ | Deafness, autosomal recessive 36 (sequence analysis of ES... | More |
| DFNB59SEQ | Deafness, autosomal recessive 59 (sequence analysis of DF... | More |
| TMPRSS3SEQ | Deafness, autosomal recessive 8/10 (sequence analysis of ... | More |
| SERPINB6SE | Deafness, autosomal recessive 91 (sequence analysis of SE... | More |
| ABCC8DELT1 | Deletion/duplication analysis of ABCC8 gene | More |
| CASRDELET | Deletion/Duplication Analysis of CASR Gene | More |
| COL1A1DEL | Deletion/duplication analysis of COL1A1 gene | More |
| COL1A2DEL | Deletion/duplication analysis of COL1A2 gene | More |
| INSDEL | Deletion/duplication analysis of INS gene | More |
| PKD12DEL | Deletion/Duplication analysis of PKD1 and PKD2 genes | More |
| MITOCDEL | Deletion/duplication analysis on mitochondrial DNA | More |
| PUNJABMUT | Delta-beta-thalassemia (Punjab mutation, c.364G>C on HBB ... | More |
| CLCN5SEQ | Dent disease type I (sequence analysis of CLCN5 gene) | More |
| DERMPCGC | Dermatology Panel - Genetic Testing | More |
| DESSEQ | Desminopathy (sequence analysis of DES gene) | More |
| FISH13Q143 | Detection by FISH of 13q14.3 Deletion | More |
| FISH20Q12 | Detection by FISH of 20q12 Deletion | More |
| FISH22Q11 | Detection by FISH of 22q11.2 Deletion | More |
| FISH5Q | Detection by FISH of 5q (5q31 and 5q32q33) | More |
| FISHEGR1 | Detection by FISH of 5q31 deletion (EGR1 gene) | More |
| FISH6Q21 | Detection by FISH of 6q21 Deletion | More |
| FISH7Q31 | Detection by FISH of 7q31 Deletion | More |
| FISHALK | Detection by FISH of ALK rearrangements (del(2p); t(2;5)) | More |
| FISHATM11 | Detection by FISH of ATM (11q22.3) Rearrangements | More |
| FISHBCL18Q | Detection by FISH of BCL2 (18q21) rearrangements | More |
| BCL6FISH | Detection By FISH Of BCl6 (3Q27) Rearrangements | More |
| FISHCBFBR | Detection by FISH of CBFB rearrangements (inv(16)/t(16;16)) | More |
| FISH8Q24CM | Detection by FISH of C-MYC (8q24) Rearrangements | More |
| FISHCSCS | Detection by FISH of Cri-du-chat syndrome | More |
| FISHDRP | Detection By FISH of Down Syndrome | More |
| FISHFGFR1 | Detection by FISH of FGFR1 (8p11) rearrangements | More |
| FISHSXYWB | Detection By FISH of Frequent Aneuploidies (13,18,21,X, Y) | More |
| DFHER2 | Detection By FISH Of HER2 | More |
| FISHIGH | Detection by FISH of IGH | More |
| FISHKMT2A | Detection by FISH of KMT2A (11q23) Rearrangements | More |
| FISHMALT1 | Detection by FISH of MALT1 (18q21) rearrangements | More |
| FISH142215 | Detection by FISH of marker chromosome (14/22,15) | More |
| FISHMDS | Detection by FISH of Miller-Dieker Syndrome | More |
| FISHMYCN | Detection by FISH of MYCN | More |
| FISHNHL | Detection By FISH Of NHL Diffuse Large Cells (t(14;18), t... | More |
| FISHNHLBCE | Detection By FISH Of NHL Large B-Cell (t(14;18) And t(11;14) | More |
| FISHNHLMAL | Detection by FISH of NHL MALT (t(14;18) and t(11;18)) | More |
| FISHPDGFRB | Detection by FISH of PDGFRB (5q32) rearrangements | More |
| FISHPMDS | Detection by FISH of Phelan-McDermid syndrome | More |
| FISHPRAD | Detection by FISH Of Prader-Willi/Angelman Syndrome (15q1... | More |
| FISHRARA17 | Detection by FISH of RARA (17q21) Rearrangements | More |
| FISHRPNMEC | Detection by FISH of RPN1/MECOM (inv/t(3)) | More |
| FISHCHROMX | Detection by FISH of Sexual Chromosomes (X/Y, Centromeric) | More |
| FISHSMS | Detection by FISH of Smith-Magenis Syndrome | More |
| FISHSR2PRO | Detection by FISH of structural rearrangements (2 probes) | More |
| FISHT1114 | Detection by FISH of t(11;14) IGH/CCND1 | More |
| FISHAPI2 | Detection by FISH of t(11;18) API2/MALT1 | More |
| FISHETV6A | Detection by FISH of t(12;21) ETV6/AML1 | More |
| FISHT1416 | Detection by FISH of t(14;16) IGH/MAF | More |
| FISHIBCL2 | Detection by FISH of t(14;18) IGH/BCL2 | More |
| FISHT1418 | Detection by FISH of t(14;18) IGH/MALT1 | More |
| T1517FISH | Detection By FISH Of T(15;17) PML/RARA | More |
| FISHCOL1A1 | Detection by FISH of t(17;22) COL1A1/PDGFB | More |
| FISHIFGF | Detection by FISH of t(4;14) IGH/FGFR3 | More |
| FISHMYigh | Detection by FISH of t(8;14) MYC/IGH | More |
| FISHRUNX1T | Detection by FISH of t(8;21) RUNX1-RUNX1T1 | More |
| FISHBCRABL | Detection by FISH of t(9;22) BCR/ABL | More |
| TP53FISHDE | Detection By FISH of TP53 (17p13.1) Deletion/Amplification | More |
| WILFISH | Detection by FISH of Williams syndrome | More |
| FISHWHS | Detection by FISH of Wolf-Hirschhorn syndrome | More |
| PMLR1517PC | Detection by RT-PCR of t(15;17) (PML/RARa) | More |
| PLEKHG4GEN | Detection of c.-16C>T mutations on PLEKHG4 gene | More |
| QFPCRANEU | Detection of Frequent Aneuploidies (Qf-PCR) | More |
| ITDTKDMUT | Detection of ITD and TKD mutations on FLT3 gene | More |
| CALRGENE | Detection Of Somatic Mutations of CALR Gene | More |
| MPLEX10GEN | Detection of Somatic Mutations of Exon 10 of MPL Gene (In... | More |
| JAK2EXON12 | Detection Of Somatic Mutations Of Exon 12 Of Jak2 Gene | More |
| SMCALREX | Detection of Somatic Mutations of Exon 9 of CALR Gene | More |
| AVPSEQ | Diabetes insipidus, primary central (sequence analysis of... | More |
| GLIS3SQDM | Diabetes mellitus neonatal (sequence analysis of GLIS3 gene) | More |
| DIABCGC | Diabetes Panel - Genetic Testing | More |
| RPS19SEQ | Diamond-Blackfan anemia (sequence analysis of RPS19 gene) | More |
| EPCAMSQTEC | Diarrhea 5, with tufting enteropathy, congenital (sequenc... | More |
| DIGDELGENE | DiGeorge/Velocardiofacial Syndrome (VCFS, Detection Of 22... | More |
| DLDGENEDDD | Dihydrolipoamide dehydrogenase deficiency (G229C mutation... | More |
| DLDSEQ | Dihydrolipoamide dehydrogenase deficiency (sequence analy... | More |
| DDDDPYD | Dihydropyrimidine dehydrogenase deficiency (sequence anal... | More |
| TNNI3SQDC | Dilated cardiomyopathy (sequence analysis of TNNI3 gene) | More |
| DPCGC | Dislipidemias Panel - Genetic Testing | More |
| HSPB3T2CSQ | Distal hereditary motor neuropathy type 2C (sequence anal... | More |
| ATP6V0ADEL | Distal Renal Tubular Acidosis AR (Deletion/Duplication of... | More |
| LRP2SEQ | Donnai-Barrow syndrome (sequence analysis of LRP2 gene) | More |
| EFEMP1GENE | Doyne honeycomb retinal dystrophy (R345W mutation on EFEM... | More |
| EFEMP1SEQD | Doyne honeycomb retinal dystrophy (sequence analysis of E... | More |
| CHN1SQ2 | Duane retraction syndrome 2 (sequence analysis of CHN1 gene) | More |
| DJSSEQANGE | Dubin-Johnson syndrome (sequence analysis of ABCC2 gene) | More |
| DMDSEQ | Duchenne/Becker muscular dystrophy (sequence analysis of ... | More |
| IKBKAPSEQ | Dysautonomia, familial (sequence analysis of IKBKAP gene) | More |
| ADARSEQDSH | Dyschromatosis symmetrica hereditaria (sequence analysis ... | More |
| NGS8DC | Dyskeratosis congenita (NGS panel for 8 genes) | More |
| TERTSEQ | Dyskeratosis congenita (sequence analysis of TERT gene) | More |
| TINF2SEQ | Dyskeratosis congenita (sequence analysis of TINF2 gene) | More |
| TERCSEQ | Dyskeratosis Congenita 1 AD (Sequence Analysis of TERC Gene) | More |
| NOP10DC1AR | Dyskeratosis congenita 1 AR (sequence analysis of NOP10 g... | More |
| NHP2SEQAR | Dyskeratosis congenita 2 AR(sequence analysis of NHP2 gene) | More |
| DKC1SEQDC | Dyskeratosis congenita, X-linked (Zinsser-Cole-Engman syn... | More |
| NGS117WESD | Dystonia (WES based NGS panel for 117 genes) | More |
| THAP1SQT6 | Dystonia type 6 (DYT6, sequence analysis of THAP1 gene) | More |
| GCH1SEQ | Dystonia, DOPA-responsive (DYT5, sequence analysis of GCH... | More |
| COL7A1SEQ | Dystrophic epidermolysis bullosa (sequence analysis of CO... | More |
| NGS8ECD | Ectodermal dysplasia (NGS panel for 8 genes) | More |
| CDH3SEQ | Ectodermal dysplasia, ectrodactyly and macular dystrophy ... | More |
| EDMSPCGC | Ehlers-Danlos and Marfan Syndromes Panel - Genetic Testing | More |
| COL5A1SEQ | Ehlers-Danlos syndrome type I (sequence analysis of COL5A... | More |
| COL5A2SEQ | Ehlers-Danlos syndrome type I (sequence analysis of COL5A... | More |
| COL3A1SEQ | Ehlers-Danlos syndrome type IV (sequence analysis of COL3A1 | More |
| PLOD1DEL | Ehlers-Danlos syndrome type VI (deletion/duplication anal... | More |
| PLOD1SEQ | Ehlers-Danlos syndrome type VI (sequence analysis of PLOD... | More |
| EDMLWESGEN | Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic a... | More |
| NGS12EVCS | Ellis Van Creveld syndrome (NGS panel of 12 genes) | More |
| EVCSEQ | Ellis Van Creveld syndrome (sequence analysis of EVC gene) | More |
| EVC2SEQ | Ellis Van Creveld syndrome (sequence analysis of EVC2 gene) | More |
| MTTL2GENE | Encephalomyopathy, Mitochondrial (Sequence Analysis of MT... | More |
| LAMA3SEQ | Epidermolysis bullosa junctional (sequence analysis of LA... | More |
| LAMB3SEQ | Epidermolysis bullosa junctional (sequence analysis of LA... | More |
| LAMC2SEQ | Epidermolysis bullosa junctional (sequence analysis of LA... | More |
| KRT14SEQ | Epidermolysis bullosa simplex (sequence analysis of KRT14... | More |
| KRT5SEQ | Epidermolysis bullosa simplex (sequence analysis of KRT5 ... | More |
| NGS343EPIL | Epilepsy (NGS panel of 343 genes) | More |
| LGI1SEQ | Epilepsy familial temporal lobe 1 (sequence analysis of L... | More |
| EPCGC | Epilepsy Panel - Genetic Testing | More |
| GABRG2SEQ | Epilepsy, generalized, with febrile seizures plus (sequen... | More |
| SCN9ASEQ7 | Epilepsy, generalized, with febrile seizures plus, type 7... | More |
| ALDH7A1SEQ | Epilepsy, Pyridoxine Dependent (Sequence Analysis of ALDH... | More |
| WES137EPIL | Epileptic encephalopathy (WES based NGS panel for 137 genes) | More |
| KCNQ2SEQ | Epileptic encephalopathy, early infantile 1 (sequence ana... | More |
| SLC25A22SQ | Epileptic encephalopathy, early infantile, 3 (sequence an... | More |
| SLC26A2SEQ | Epiphyseal dysplasia (sequence analysis of SLC26A2 gene) | More |
| COMPEDM1 | Epiphyseal dysplasia, multiple 1 (mutation p.Asp473del of... | More |
| KCNA1SEQ | Episodic ataxia type 1 (sequence analysis of KCNA1 gene) | More |
| PRRT2SEQ | Episodic kinesigenic dyskinesia 1 (sequence analysis of P... | More |
| EPORSQER | Erythrocytosis (sequence analysis of EPOR gene) | More |
| FECHSEQEP | Erythropoietic protoporphyria (sequence analysis of FECH ... | More |
| EXT2SEQ | Exostoses, multiple (sequence analysis of EXT2 gene) | More |
| TSPAN12SEQ | Exudative vitreoretinopathy 5 (sequence analysis of TSPAN... | More |
| EDCPCGC | Eye Disorders Comprehensive Panel - Genetic Testing | More |
| GLADELET | Fabry disease (deletion/duplication analysis on GLA gene) | More |
| FABRYGLAGE | Fabry Disease (Sequence Analysis of GLA Gene) | More |
| SMCDUXSEQ | Facioscapulohumeral muscular dystrophy-2 (sequence analys... | More |
| F12SEQ | Factor XII deficiency (sequence analysis of F12 gene) | More |
| F13A1SQ13 | Factor XIII deficiency (sequence analysis of F13A1 gene) | More |
| MUTYHSQ2 | Familial adenomatous polyposis 2 (sequence analysis of MU... | More |
| BRCA12SQCN | Familial Breast/Ovarian Cancer (Sequencing and CNV analys... | More |
| CACNA1ASEQ | Familial hemiplegic migraine type 1 (FHM1, sequence analy... | More |
| ATP1A2SEQ | Familial hemiplegic migraine type 2 (FHM2, sequence analy... | More |
| STXBP2SEQ | Familial hemophagocytic lymphohistiocytosis 5 (sequence a... | More |
| KCNJ5T3SEQ | Familial hyperaldosteronism type III (sequence analysis o... | More |
| MYH7SEQT1 | Familial hypertrophic cardiomyopathy type 1 (CMH1, sequen... | More |
| GNA11SEQ | Familial hypocalciuric hypercalcemia type 2 (sequence ana... | More |
| TRPC6SEQ | Familial idiopathic steroid-resistant nephrotic syndrome ... | More |
| ABCB4GENE | Familial Intrahepatic Cholestasis (deletion/duplication A... | More |
| ATP8B1SEQ | Familial intrahepatic cholestasis (PFIC1, sequence analys... | More |
| ABCB11SEQ | Familial Intrahepatic Cholestasis (PFIC2, sequence analys... | More |
| FMFDD | Familial Mediterranean Fever (Deletion/Duplication Analys... | More |
| FMFG | Familial Mediterranean Fever (Frequent Mutation of MEFV G... | More |
| FMFSG | Familial Mediterranean Fever (Sequence Analysis of MEFV G... | More |
| RETFREQ | Familial medullary thyroid carcinoma (frequent mutations ... | More |
| TNFRSF1ASQ | Familial periodic fever (sequence analysis of TNFRSF1A gene) | More |
| ATL1SEQ | Familial Spastic paraplegia 3A (SPG3A, sequence analysis ... | More |
| TTRMET30 | Familial Transthyretin Amyloidosis (Met30 Mutation on TTR... | More |
| TTRSEQ | Familial transthyretin amyloidosis (sequence analysis of ... | More |
| FTCNGS | Family Tumoral Calcinosis (NGS Panel Of 4 Genes) | More |
| FVS2 | Family variant study / fragment (two variants / fragments... | More |
| FANGSGENE | Fanconi Anemia (NGS Panel For 15 Genes, Including CNV ana... | More |
| FANCBSQTB | Fanconi anemia type B (sequence analysis of FANCB gene) | More |
| FANCSO | Fanconi anemia type C (deletion/duplication analysis of F... | More |
| FANCD2SQD2 | Fanconi anemia type D2 (sequence analysis of FANCD2 gene) | More |
| SLC2A2SEQ | Fanconi-Bickel syndrome (sequence analysis of SLC2A2 gene) | More |
| ASAH1SEQ | Farber lipogranulomatosis (sequence analysis of ASAH1 gene) | More |
| MYCNSEQ | Feingold syndrome (sequence analysis of MYCN gene) | More |
| FIPCGC | Female Infertility Panel - Genetic Testing | More |
| ITGB3GENE | Fetal and neonatal alloimmune thrombocytopenia | Glanzman... | More |
| FHNGSGEN | Fetal Hydrops (WES based NGS panel for 66 genes) | More |
| PHOX2ASEQ | Fibrosis of extraocular muscles, congenital 2 (sequence a... | More |
| KIF21ASEQ | Fibrosis of extraocular muscles, congenital type 1 (seque... | More |
| CKCDKADEL | FISH analysis of CKS1B/CDKN2C genes amplification/deletion | More |
| FISHCHR12 | FISH Analysis With Centromeric Probe - Chromosome 12 | More |
| FISHCR1321 | FISH Analysis With Centromeric Probe - Chromosome 13/21 | More |
| FISHCP1422 | FISH Analysis With Centromeric Probe - Chromosome 14/22 | More |
| FISHCHR15 | FISH Analysis With Centromeric Probe - Chromosome 15 | More |
| FISHCHR6 | FISH Analysis With Centromeric Probe - Chromosome 6 | More |
| FISHCHR8 | FISH analysis with centromeric probe - chromosome 8 | More |
| FISHCHR9 | FISH Analysis With Centromeric Probe - Chromosome 9 | More |
| PROB39FISH | FISH analysis with centromeric probe (3 and 9) | More |
| FISHCENT | FISH analysis with centromeric probe (7 and 15) | More |
| SUBTFISH | FISH Analysis with Subtelomeric Probe | More |
| PLA2G5SEQ | Fleck retina, familial benign (sequence analysis of PLA2G... | More |
| SRCAPSEQ | Floating-Harbor syndrome (sequence analysis of SRCAP gene) | More |
| FSGNGS | Focal Segmental Glomerulosclerosis (WES Based NGS Panel 3... | More |
| ACTN4SEQ1 | Focal segmental glomerulosclerosis 1 (sequence analysis o... | More |
| FSHBSEQGEN | Follicle-stimulating hormone deficiency, isolated (sequen... | More |
| FMR1TPPCR | Fragile X syndrome (FMR1 gene, msTP-PCR) | More |
| FRAXAFMR1 | Fragile X syndrome (FRAXA, FMR1 gene, conventional PCR) | More |
| FXSTPPCR | Fragile X Syndrome (FRAXA, FMR1 Gene, MsTP-PCR) | More |
| FXS | Fragile X Syndrome (Sequence Analysis of FMR1 Gene) | More |
| FMR1DEL | Fragile-X Syndrome (FRAXA, deletion/duplication analysis ... | More |
| FRAS1SEQ | Fraser syndrome (sequence analysis of FRAS1 gene) | More |
| FREM2SEQ | Fraser syndrome (sequence analysis of FREM2 gene) | More |
| FXNGENE | Friedreich Ataxia (FRDA, GAA expansion on FXN gene) | More |
| FXNGAAQNT | Friedreich Ataxia (Quantification Of GAA Expansion on FXN... | More |
| FD3SEQ | Frontonasal Dysplasia 3 (Sequence Analysis of ALX1 Gene) | More |
| ALX3SEQFD | Frontonasal dysplasia1 (sequence analysis of ALX3 gene) | More |
| MAPTGRNDEL | Frontotemporal dementia (deletion/duplication analysis on... | More |
| C9ORF72DET | Frontotemporal dementia (detection of GGGGCC expansion on... | More |
| GRNSEQ | Frontotemporal dementia (sequence analysis of GRN gene) | More |
| MAPTSEQ | Frontotemporal dementia (sequence analysis of MAPT gene) | More |
| FIGENE | Fructose Intolerance (Sequence Analysis Of ALDOB Gene) | More |
| FBP1DEL | Fructose-1,6-Bisphosphatase Deficiency (Deletion/Duplicat... | More |
| FBP1SEQ | Fructose-1,6-bisphosphatase Deficiency (sequence analysis... | More |
| FUCA1SEQ | Fucosidosis (sequence analysis of FUCA1 gene) | More |
| FKTNSEQFC | Fukuyama congenital muscular dystrophy (sequence analysis... | More |
| FSDMD | Full Sequencing DMD Gene | More |
| GALTY1GENE | Galactosemia (deletion/duplication Analysis On GALT Gene) | More |
| GALTSEQGEN | Galactosemia (Sequence Analysis of GALT Gene) | More |
| GALK1SEQ | Galactosemia type II (sequence analysis of GALK1 gene) | More |
| GALEGENE | Galactosemia Type III (sequence Analysis Of GALE Gene) | More |
| CTSASEQ | Galactosialidosis (sequence analysis of CTSA gene) | More |
| WDR73GMSEQ | Galloway-Mowat syndrome (sequence analysis of WDR73 gene) | More |
| GAPPSFREQ | Gastric adenocarcinoma and proximal polyposis of the stom... | More |
| CDH1SEQ | Gastric cancer, hereditary diffuse (sequencing and CNV an... | More |
| GICPCGC | Gastrointestinal Cancer Panel - Genetic Testing | More |
| GBASEQ | Gaucher disease (sequence analysis of GBA gene) | More |
| SCN1BSEQT1 | Generalized epilepsy with febrile seizures plus type 1 (G... | More |
| GSYN | Gilbert Syndrome (Sequence Analysis of UGT1A1 gene) | More |
| GSUGT1A1 | Gilbert syndrome (TA insertion on UGT1A1 gene) | More |
| GISTDETSOM | GIST [detection of somatic mutations: KIT (exons 8 - 11, ... | More |
| KITEX7SMCL | GIST | Acute myeloid leukemia | Mast cell leukemia | Mela... | More |
| SLC12A3DEL | Gitelman syndrome (deletion/duplication analysis of SLC12... | More |
| SLC12A3SEQ | Gitelman Syndrome (Sequence Analysis of SLC12A3 Gene) | More |
| ITAG2BGENE | Glanzmann thrombasthenia (sequence analysis of ITGA2B gene) | More |
| GPCGC | Glaucoma Panel - Genetic Testing | More |
| LTBP2SEQ | Glaucoma, primary congenital (sequence analysis of LTBP2 ... | More |
| IDH12MLPA | Glioma Gastric Cancer (methilation analysis of MGMT gene ... | More |
| INF2SEQT5 | Glomerulosclerosis, focal segmental type 5 (sequence anal... | More |
| MC2RSEQT1 | Glucocorticoid deficiency type 1 (sequence analysis of MC... | More |
| MRAPSEQT2 | Glucocorticoid deficiency type 2 (sequence analysis of MR... | More |
| SLC2A1DEL | Glucose transporter type 1 deficiency (deletion/duplicati... | More |
| SLC5A1SEQ | Glucose/galactose malabsorption (sequence analysis of SLC... | More |
| G6PDG | Glucose-6-Phosphate Dehydrogenase Deficiency (Sequence An... | More |
| SLC2A1SEQ | GLUT1 deficiency syndrome 1 (sequence analysis of SLC2A1 ... | More |
| ETFASEQ | Glutaric aciduria II (sequence analysis of ETFA gene) | More |
| ETFDHSEQ | Glutaric aciduria type 2 (sequence analysis of ETFDH gene) | More |
| GCDHDELE | Glutaric Aciduria Type I (Deletion/Duplication Analysis o... | More |
| GCDHGENE | Glutaric Aciduria Type I (Sequence Analysis Of GCDH Gene) | More |
| GSSSEQ | Glutathione synthetase deficiency (sequence analysis of G... | More |
| AMTSEQGE | Glycine encephalopathy (sequence analysis of AMT gene) | More |
| GCSHSEQ | Glycine encephalopathy (sequence analysis of GCSH gene) | More |
| GLYCOG22G | Glycogen storage disease (NGS panel for 22 genes) | More |
| G6PCSEQT1A | Glycogen storage disease due to glucose-6-phosphatase def... | More |
| SLC37A4SEQ | Glycogen storage disease due to glucose-6-phosphatase def... | More |
| AGLSEQIII | Glycogen storage disease III (sequence analysis of AGL gene) | More |
| GAASEQTII | Glycogen storage disease type II (sequence analysis of GA... | More |
| PHKA2DEL | Glycogen storage disease type IXa1 (deletion/duplication ... | More |
| PHKA2SEQ | Glycogen storage disease type IXa1 (sequence analysis of ... | More |
| PHKBSEQ | Glycogen storage disease type IXb (sequence analysis of P... | More |
| PHKG2SEQ | Glycogen storage disease type IXc (sequence analysis of P... | More |
| MCADELPYGM | Glycogen Storage Disease Type V (McArdle Disease, Deletio... | More |
| PYGMSEQMD | Glycogen storage disease type V (McArdle disease, sequenc... | More |
| PYGMGSD | Glycogen Storage Disease Type V (p.Arg50X Mutation on PYG... | More |
| PYGLSEQ | Glycogen storage disease type VIb (sequence analysis of P... | More |
| PGM1SEQ | Glycogen storage disease type XIV (sequence analysis of P... | More |
| GYS2SEQT0 | Glycogenosis type 0 (sequence analysis of GYS2 gene) | More |
| MGAT2SEQ | Glycosylation disorder type IIa (sequence analysis of MGA... | More |
| SLC35C1SQ2 | Glycosylation disorder type IIc (sequence analysis of SLC... | More |
| DPM3GENE | Glycosylation disorder type Io (sequence analysis of DPM3... | More |
| GLB1SEQ | GM1 Gangliosidosis (sequence analysis of GLB1 gene) | More |
| HEXBDELET | GM2-gangliosidosis type 2 (Sandhoff disease, deletion/dup... | More |
| HEXBSEQGEN | GM2-gangliosidosis type 2 (Sandhoff disease, sequence ana... | More |
| RAB27ASEQ | Griscelli syndrome type 2 (sequence analysis of RAB27A gene) | More |
| GH1SEQ | Growth hormone deficiency, isolated type IA (sequence ana... | More |
| IGF1SEQ | Growth Retardation due to IGF1 Deficiency (Sequence Analy... | More |
| GYNCPCGC | Gynecological (Breast, Ovarian, Endometrial) Cancer Panel... | More |
| OATSEQ | Gyrate atrophy of choroid and retina with or without orni... | More |
| HHCH | Haemochromatosis HFE Common Mutations C282Y + H63D | More |
| HLPCGC | Hearing loss Panel - Genetic Testing | More |
| HMHPCGC | Hematological Malignancies Hereditary Panel - Genetic Te... | More |
| HCPCGC | Hematology Comprehensive Panel - Genetic Testing | More |
| HEM8NGS | Hemochromatosis (NGS Panel For 8 Genes) | More |
| HFEG | Hemochromatosis HFE Gene Analysis | More |
| TFR2SEQT3 | Hemochromatosis type 3 (sequence analysis of TFR2 gene) | More |
| SLC40A1SEQ | Hemochromatosis type 4 (sequence analysis of SLC40A1 gene) | More |
| AK1SEQAKD | Hemolytic anemia due to adenylate kinase deficiency (sequ... | More |
| CFHSEQ1 | Hemolytic uremic syndrome 1, atypical (sequence analysis of | More |
| THBDSEQ | Hemolytic uremic syndrome, atypical with thrombomodulin d... | More |
| CFHR1SEQ | Hemolytic uremic syndrome, atypical, susceptibility to (s... | More |
| UNC13DSEQT | Hemophagocytic lymphohistiocytosis familial type 3 (seque... | More |
| PRF1SEQFAM | Hemophagocytic lymphohistiocytosis, familial (sequence an... | More |
| F8DELGEN | Hemophilia A (deletion/duplication analysis on F8 gene) | More |
| F8SEQGENE | Hemophilia A (sequence Analysis Of F8 Gene) | More |
| HEPBF9 | Hemophilia B (Sequence Analysis of F9 Gene) | More |
| CCBE1SEQ | Hennekam syndrome (sequence analysis of CCBE1 gene) | More |
| SCO1SEQ | Hepatic failure, early onset, and neurologic disorder (se... | More |
| SERPING1DE | Hereditary Angioedema Type 1 (deletion/duplication analys... | More |
| SERPING1GE | Hereditary Angioedema Type 1 (sequence Analysis Of SERPIN... | More |
| FXIISAGEN | Hereditary angioedema type 3 | Factor XII deficiency (seq... | More |
| HAPCGC | Hereditary Ataxia Panel - Genetic Testing | More |
| HCCPCGC | Hereditary Cancer Comprehensive Panel - Genetic Testing | More |
| GGCXSEQ | Hereditary combined deficiency of vitamin K-dependent clo... | More |
| NGS57WESH | Hereditary ichthyosis (WES based NGS panel for 57 genes) | More |
| CSF3RSEQ | Hereditary neutrophilia (sequence analysis of CSF3R gene) | More |
| PMS2DEL | Hereditary nonpolyposis colorectal cancer (HNPCC, deletio... | More |
| PMS2SEQGEN | Hereditary nonpolyposis colorectal cancer (HNPCC, sequenc... | More |
| HNPCCSEQ | Hereditary Nonpolyposis Colorectal Cancer (HNPCC, Sequenc... | More |
| NTRK1SEQ4 | Hereditary sensory and autonomic neuropathy type IV/ inse... | More |
| NGS74HSP | Hereditary spastic paraplegia (WES based NGS panel for 74... | More |
| HSPPCGC | Hereditary Spastic Paraplegia Panel - Genetic Testing | More |
| NGS12HSPAD | Hereditary spastic paraplegia, AD (NGS panel of 12 genes) | More |
| NGS33HSPAR | Hereditary spastic paraplegia, AR and X-linked (NGS panel... | More |
| HSNGS | Hereditary Spherocytosis (NGS Panel Of 5 Genes) | More |
| ANK1SEQ | Hereditary spherocytosis type 1 (sequence analysis of ANK... | More |
| SPTBSEQ | Hereditary spherocytosis type 2 (sequence analysis of SPT... | More |
| SPTA1SEQ | Hereditary spherocytosis type 3 (sequence analysis of SPT... | More |
| SLC4A1SEQ | Hereditary spherocytosis type 4 (sequence analysis of SLC... | More |
| HTDTCASERP | Hereditary thrombophilia due to congenital antithrombin d... | More |
| HPS1SEQ | Hermansky-Pudlak syndrome 1 (sequence analysis of HPS1 gene) | More |
| HPS5SEQ | Hermansky-Pudlak syndrome 5 (sequence analysis of HPS5 gene) | More |
| HPS6SEQ | Hermansky-Pudlak syndrome 6 (sequence analysis of HPS6 gene) | More |
| BLOC1S3SEQ | Hermansky-Pudlak syndrome 8 (sequence analysis of BLOC1S3... | More |
| HPS3SEQ | Hermansky-Pudlak syndrome type 3 (sequence analysis of HP... | More |
| NGS8HET | Heterotaxy (WES based NGS panel for 8 genes) | More |
| MVKSQ | Hiper IgD syndrome (sequence analysis of MVK gene) | More |
| GDNFHIRSCH | Hirschsprung disease (sequence analysis of GDNF gene) | More |
| MSH2SEQ | HNPCC, sequence analysis of MSH2 gene | More |
| MSH6SEQ | HNPCC, sequence analysis of MSH6 gene | More |
| HLCSSEQ | Holocarboxylase synthetase deficiency (sequence analysis ... | More |
| SHHSEQHOLO | Holoprosencephaly (sequence analysis of SHH gene) | More |
| SIX3SEQ | Holoprosencephaly 2 (sequence analysis of SIX3 gene) | More |
| TGIF1SQH4 | Holoprosencephaly 4 (sequence analysis of TGIF1 gene) | More |
| GLI2SEQ | Holoprosencephaly 9 (sequence analysis of GLI2 gene) | More |
| TBX5DEL | Holt-Oram syndrome (deletion/duplication analysis on TBX5... | More |
| TBX5SEQ | Holt-Oram Syndrome (Sequence Analysis of TBX5 Gene) | More |
| HUNTDSESO | Huntington Disease (Detection of Expanded CAG Triplet-Rep... | More |
| HUNT1 | Huntington disease-like 1 (HDL1, detection of expansion o... | More |
| HUNT2 | Huntington disease-like 2 (HDL2, CTG expansion on JPH3 gene) | More |
| IDUASEQ | Hurler syndrome or MPS1 (sequence analysis of IDUA gene) | More |
| LMNASEQ | Hutchinson-Gilford progeria (sequence analysis of LMNA gene) | More |
| ANTXR2GEN | Hyalinosis, Infantile Systemic (sequence Analysis Of ANTX... | More |
| L1CAMSEQ | Hydrocephalus, X-linked (sequence analysis of L1CAM gene) | More |
| HYLS1SEQ | Hydrolethalus syndrome (sequence analysis of HYLS1 gene) | More |
| CYP11B2SEQ | Hyperaldosteronism (sequence analysis of CYP11B2 gene) | More |
| CYP24A1SEQ | Hypercalcemia, infantile, AR (sequence analysis of CYP24A1 g | More |
| TJP2SEQ | Hypercholanemia (sequence analysis of TJP2 gene) | More |
| APOBGENE | Hypercholesterolemia (frequent mutations of APOB gene) | More |
| LDLRAP1SEQ | Hypercholesterolemia, AR (sequence analysis of LDLRAP1 gene) | More |
| LDLRDEL | Hypercholesterolemia, familial (deletion/duplication anal... | More |
| LDLRSEQ | Hypercholesterolemia, familial (sequence analysis of LDLR... | More |
| PCSK9SEQ | Hypercholesterolemia, familial (sequence analysis of PCSK... | More |
| NGS7HYPER | Hyperekplexia (NGS panel of 7 genes) | More |
| GLRBSEQ2 | Hyperekplexia 2 (sequence analysis of GLRB gene) | More |
| SLC6A5SEQ3 | Hyperekplexia 3 (sequence analysis of SLC6A5 gene) | More |
| GLRA1SEQ1 | Hyperekplexia, hereditary 1 (sequence analysis of GLRA1 gene | More |
| IREGEFTLGE | Hyperferritinemia with or without cataract (sequence anal... | More |
| STAT3SEQ | Hyper-IGE Syndrome (Sequence Analysis of STAT3 Gene) | More |
| HYPIGEDEL | Hyper-IgE syndrome, AR (deletion/duplication analysis on ... | More |
| ABCC8SEQ | Hyperinsulinemic hypoglycemia, familial, 1 (sequence anal... | More |
| KCNJ11SEQ2 | Hyperinsulinemic hypoglycemia, familial, 2 (sequence anal... | More |
| GLUD1SEQ | Hyperinsulinism-hyperammonemia syndrome (sequence analysi... | More |
| SCN4ASEQ | Hyperkalemic periodic paralysis type 2 (sequence analysis... | More |
| APOA5SEQT4 | Hyperlipoproteinemia type 4 (sequence analysis of APOA5 g... | More |
| SLC30A10SE | Hypermanganesemia with dystonia, polycythemia and cirrhos... | More |
| QDPRSEQ | Hyperphenylalaninemia, C (sequence analysis of QDPR gene) | More |
| HYT1SAGEN | Hyperprolinemia type I (sequence analysis of PRODH gene) | More |
| HYPIISAGEN | Hyperprolinemia type II (sequence analysis of ALDH4A1 gene) | More |
| PDE3ASEQHB | Hypertension and brachydactyly syndrome (sequence analysi... | More |
| SLCO2A1SQ2 | Hypertrophic osteoarthropathy, primary 2 AR (sequence ana... | More |
| CASRSEQ | Hypocalciuric Hypercalcemia Type I (Sequence Analysis of ... | More |
| HH1SEQCASR | Hypocalciuric hypercalcemia type I | Hyperparathyroidism ... | More |
| AP2S1SEQ | Hypocalciuric hypercalcemia, familial, type III (sequence... | More |
| LHBSEQHH | Hypogonadism, hypogonadotropic (sequence analysis of LHB ... | More |
| KISS1SEQ | Hypogonadotropic hypogonadism 13 with or without anosmia ... | More |
| PROKR2GEN | Hypogonadotropic hypogonadism 3 with or without anosmia (... | More |
| EDASEQ | Hypohidrotic ectodermal dysplasia 1, X-linked (sequence a... | More |
| CACNA1SSEQ | Hypokalemic periodic paralysis type 1 (sequence analysis ... | More |
| HMGNGS | Hypomagnesemia (NGS Panel Of 17 Genes) | More |
| CLDN19SEQ | Hypomagnesemia type 5 (sequence analysis of CLDN19 gene) | More |
| FAM126ASEQ | Hypomyelination and congenital cataract (sequence analysi... | More |
| FGF23DEL | Hypophosphatemic rickets (deletion/duplication analysis o... | More |
| ENPP1SEQ | Hypophosphatemic rickets (sequence analysis of ENPP1 gene) | More |
| FGF23SQ | Hypophosphatemic rickets (sequence analysis of FGF23 gene) | More |
| PHEXSEQ | Hypophosphatemic rickets (sequence analysis of PHEX gene) | More |
| SLC34A3SEQ | Hypophosphatemic rickets (sequence analysis of SLC34A3 gene) | More |
| TSHRSEQ1 | Hypothyroidism congenital nongoitrous 1 (sequence analysi... | More |
| TSHBGEN | Hypothyroidism congenital nongoitrous 4 (sequence analysi... | More |
| APCDD1SEQ | Hypotrichosis 1 (Sequence Analysis of APCDD1 Gene) | More |
| SLC22A12SQ | Hypouricemia renal (RHUC1, sequence analysis of SLC22A12 ... | More |
| TGM1SEQ | Ichthyosis congenital 1, AR (sequence analysis of TGM1 gene) | More |
| ABCA12SEQ | Ichthyosis, AR 4B (harlequin) (sequence analysis of ABCA1... | More |
| STSSEQ | Ichthyosis, X-linked (sequence analysis of STS gene) | More |
| IGF1DEL | IGF1 deficiency (deletion/duplication analysis of IGF1 gene) | More |
| IGKCR | IGK Clonal Rearrangement | More |
| IMMDPCGC | Immune Disorders Panel - Genetic Testing | More |
| IFNGR1SEQ | Immunodeficiency 27A, mycobacteriosis AR (sequence analys... | More |
| IFNGR2SEQ | Immunodeficiency 28, mycobacteriosis (sequence analysis o... | More |
| IL12RB1GEN | Immunodeficiency 30 (sequence Analysis Of IL12RB1 Gene) | More |
| STAT1SEQ | Immunodeficiency 31A/31B (sequence analysis of STAT1 gene) | More |
| CD40LGSEQ | Immunodeficiency, X-linked with hyper-IgM (sequence analysis | More |
| IRAK4C1282 | Increased risk for infection with Gram-positive bacteria ... | More |
| NOD2SEQIBD | Inflammatory bowel disease (sequence analysis of NOD2 gene) | More |
| PRNPGENSEQ | Insomnia, fatal familial (sequence analysis of PRNP gene) | More |
| IDPCGC | Intellectual Disability Panel - Genetic Testing | More |
| IFNL3INTE | Interleukin 28B genotyping (g. 39738787C>T variant of IFN... | More |
| FOXP3SEQ | IPEX syndrome (sequence analysis of FOXP3 gene) | More |
| UGT1A1GENE | Irinotecan toxicity (TA insertion on UGT1A1 gene) | More |
| TMPRSS6SEQ | Iron-refractory iron deficiency anemia (sequence analysis... | More |
| IVDSQGENE | Isovaleric Acidemia (sequence Analysis Of IVD Gene) | More |
| JV6F | Jak2 V617F | More |
| CNNM4SEQ | Jalili syndrome (sequence analysis of CNNM4 gene) | More |
| NGS2JERLN | Jervell and Lange-Nielsen syndrome (NGS panel for 2 genes) | More |
| KCNE1GENE | Jervell and Lange-Nielsen syndrome (sequence analysis of ... | More |
| KCNQ1SEQ | Jervell and Lange-Nielsen syndrome (sequence analysis of ... | More |
| AHI1SEQ | Joubert syndrome 3 (sequence analysis of AHI1 gene) | More |
| INPP5ESEQ | Joubert syndrome type 1 (sequence analysis of INPP5E gene) | More |
| TCTN1SEQ | Joubert syndrome type 13 (JBTS13, sequence analysis of TC... | More |
| TMEM237SEQ | Joubert syndrome type 14 (JBTS14, sequence analysis of TM... | More |
| CEP41SEQ | Joubert syndrome type 15 (JBTS15, sequence analysis of CE... | More |
| TMEM216SEQ | Joubert syndrome type 2 (JBTS2, sequence analysis of TMEM... | More |
| ARL13BSEQ8 | Joubert syndrome type 8 (JBTS8, sequence analysis of ARL1... | More |
| CC2D2ASEQ | Joubert syndrome type 9 (sequence analysis of CC2D2A gene) | More |
| NPHP1SEQJT | Joubert type 4 syndrome (sequence analysis of NPHP1 gene) | More |
| KDM6ADEL | Kabuki syndrome (deletion/duplication analysis of KDM6A g... | More |
| KABUKDEL | Kabuki Syndrome (Deletion/Duplication Analysis on KMT2D G... | More |
| KMT2DSEQ | Kabuki Syndrome (Sequence Analysis of KMT2D Gene) | More |
| KDM6ASEQ | Kabuki Syndrome 2 (Sequence Analysis of KDM6A Gene) | More |
| ANOSKAL1SQ | Kallmann syndrome (sequence analysis of ANOS1/KAL1 gene) | More |
| ANKRD11DEL | KBG syndrome (deletion/duplication analysis on ANKRD11 gene) | More |
| ANKRD11SEQ | KBG syndrome (sequence analysis of ANKRD11 gene) | More |
| KSS4977DEL | Kearns-Sayre syndrome (KSS, 4977bp deletion in mtDNA) | More |
| CAGEXAR | Kennedy disease (SBMA, CAG expansion on AR gene) | More |
| VSX1SEQT1 | Keratoconus type 1 (sequence analysis of VSX1 gene) | More |
| MGPSQKS | Keutel syndrome (sequence analysis of MGP gene) | More |
| KDPCGC | Kidney Disorders Panel - Genetic Testing | More |
| GDF6SEQ | Klippel-Feil syndrome (sequence analysis of GDF6 gene) | More |
| GDF3SEQ | Klippel-Feil syndrome type 3, AD (sequence analysis of GDF3 | More |
| COL2A1SEQ | Kniest dysplasia (sequence analysis of COL2A1 gene) | More |
| COL18A1SEQ | Knobloch syndrome type 1 (sequence analysis of COL18A1 gene) | More |
| GALCSQKD | Krabbe disease (sequence analysis of GALC gene) | More |
| L2HGDHSQHA | L-2-hydroxyglutaric aciduria (sequence analysis of L2HGDH ge | More |
| MCM6LI | Lactose Intolerance (sequence analysis of MCM6 gene) | More |
| GHRSEQ | Laron syndrome (sequence analysis of GHR gene) | More |
| FLNBSEQLS | Larsen syndrome (sequence analysis of FLNB gene) | More |
| LRATSEQ | Leber congenital amaurosis (sequence analysis of LRAT gene) | More |
| RPE65SEQ | Leber congenital amaurosis (sequence analysis of RPE65 gene) | More |
| GUCY2DSEQ1 | Leber congenital amaurosis 1 (sequence analysis of GUCY2D ge | More |
| CEP290SEQL | Leber congenital amaurosis 10 (LCA10, sequence analysis o... | More |
| RD3SEQ12 | Leber congenital amaurosis 12 (LCA12, sequence analysis of R | More |
| RDH12SEQ13 | Leber congenital amaurosis 13 (sequence analysis of RDH12 ge | More |
| KCNJ13SEQ | Leber congenital amaurosis 16 (LCA16, sequence analysis o... | More |
| CRXSEQ7 | Leber congenital amaurosis 7 (sequence analysis of CRX gene) | More |
| NMNAT1SEQ9 | Leber congenital amaurosis 9 (LCA9, sequence analysis of ... | More |
| RPGRIP1SEQ | Leber congenital amaurosis type 6 (sequence analysis of R... | More |
| LHONFREQ3 | Leber's Hereditary Optic Neuropathy (LHON, 3 frequent mut... | More |
| NGS13LVNCL | Left ventricular noncompaction (LVNC, NGS panel for 13 ge... | More |
| SPRED1SEQ | Legius syndrome (sequence analysis of SPRED1 gene) | More |
| COX15SEQ | Leigh syndrome (sequence analysis of COX15 gene) | More |
| NDUFS4SEQ | Leigh syndrome (sequence analysis of NDUFS4 gene) | More |
| MTATP6GLS | Leigh syndrome | NARP (m.8993T>G and m.8993T>C mutation o... | More |
| SURF1SEQ | Leigh syndrome due to COX deficiency (sequence analysis o... | More |
| ECHS1SQGEN | Leigh Syndrome With Leukodystrophy (sequence Analysis Of ... | More |
| SHOXDELLW | Leri-Weill dyschondrosteosis (deletion/duplication analys... | More |
| SHOXSEQLW | Leri-Weill dyschondrosteosis (sequence analysis of SHOX g... | More |
| HPRT1DEL | Lesch-Nyhan syndrome (deletion/duplication analysis on HP... | More |
| ITGB2SEQ | Leukocyte adhesion deficiency (sequence analysis of ITGB2... | More |
| AIMP1SEQ | Leukodystrophy hypomyelinating type 3 (sequence analysis ... | More |
| HSPD1SEQ | Leukodystrophy hypomyelinating type 4 (sequence analysis ... | More |
| RNASET2SQ | Leukoencephalopathy cystic without megalencephaly (sequen... | More |
| DARS2SEQ | Leukoencephalopathy with brainstem and spinal cord involv... | More |
| EIF2B1SEQ | Leukoencephalopathy with Vanishing White Matter (sequence... | More |
| CSF1RSEQLK | Leukoencephalopathy, diffuse hereditary, with spheroids (... | More |
| SCNN1BSEQL | Liddle syndrome (sequence analysis of SCNN1B gene) | More |
| SCNN1GSEQL | Liddle syndrome (sequence analysis of SCNN1G gene) | More |
| CHEK2SEQT2 | Li-Fraumeni syndrome type 2 (sequence analysis of CHEK2 g... | More |
| NGS26LGMD | Limb-girdle muscular dystrophies (NGS panel for 26 genes) | More |
| LIMB42NGS | Limb-girdle Muscular Dystrophies (NGS Panel Of 42 Genes) | More |
| MYOTSEQ1A | Limb-girdle muscular dystrophy type 1A (LGMD1A, sequence ... | More |
| DYSFT2BSEQ | Limb-girdle muscular dystrophy type 2B (LGMD2B, sequence ... | More |
| SGCGLGMD2C | Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C, p.Cys283T... | More |
| SGCASEQ2D | Limb-girdle muscular dystrophy type 2D (LGMD2D, sequence ... | More |
| FKRP2ISEQ | Limb-girdle muscular dystrophy type 2I (LGMD2I, sequence ... | More |
| LPLSEQ | Lipase deficiency (sequence analysis of LPL gene) | More |
| DLDP229TYR | Lipoamide dehydrogenase deficiency (p.GLy229Cys and p.Tyr... | More |
| PTRFSQT4 | Lipodystrophy, congenital Berardinelli-Seip type 4, with ... | More |
| STARSEQ | Lipoid adrenal hyperplasia (sequence analysis of STAR gene) | More |
| PAFAH1B1SQ | Lissencephaly 1 (LIS1, sequence analysis of PAFAH1B1 gene) | More |
| TGFBR1SEQ | Loeys-Dietz syndrome (sequence analysis of TGFBR1 gene) | More |
| KCNQ1SEQ1 | Long QT syndrome 1 (LQT1, sequence analysis of KCNQ1 gene) | More |
| SCN4BSEQ10 | Long QT syndrome 10 (sequence analysis of SCN4B gene) | More |
| SNTA1SEQ12 | Long QT syndrome 12 (sequence analysis of SNTA1 gene) | More |
| KCNH2SEQ2 | Long QT syndrome 2 (LQT2, sequence analysis of KCNH2 gene) | More |
| KCNE1GELQT | Long QT syndrome 5 (LQT5, sequence analysis of KCNE1 gene) | More |
| KCNE2LQT | Long QT syndrome type 6 (LQT6, sequence analysis of KCNE2... | More |
| HADHAE510Q | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (E5... | More |
| OCRLSEQLS | Lowe syndrome (sequence analysis of OCRL gene) | More |
| MED12SEQ | Lujan-Fryns syndrome (sequence analysis of MED12 gene) | More |
| LDPCGC | Lung Disorders Panel - Genetic Testing | More |
| ITK1GENE | Lymphoproliferative syndrome 1 (sequence analysis of ITK ... | More |
| XIAPSEQ | Lymphoproliferative syndrome 2, X-linked (sequence analys... | More |
| SLC7A7SEQ | Lysinuric protein intolerance (sequence analysis of SLC7A... | More |
| NGS122LPD | Lysosomal and peroxisomal diseases (NGS panel of 122 genes) | More |
| MACHADO | Machado Joseph disease (SCA3, CAG expansion on ATXN3 gene) | More |
| CHST6SEQ | Macular corneal dystrophy (sequence analysis of CHST6 gene) | More |
| BEST1SEQMD | Macular dystrophy vitelliform (sequence analysis of BEST1... | More |
| MIPCGC | Male Infertility Panel - Genetic Testing | More |
| MCD64GENE | Malformation of Cortical Development (NGS panel 64 genes) | More |
| RYR1SEQ | Malignant hyperthermia susceptibility (sequence analysis ... | More |
| MBL2SEQ | Mannose-binding protein deficiency (sequence analysis of ... | More |
| BCKDHAGENE | Maple syrup urine disease (c.117del, p.Arg40Glyfs*23 muta... | More |
| BCKDHBSQ2B | Maple syrup urine disease (sequence analysis of BCKDHB gene) | More |
| CKDHBGENE | Maple Syrup Urine Disease (Sequence Analysis of BCKDHB Gene) | More |
| MSUDBCKSG | Maple syrup urine disease type Ia (seq. analysis of BCKDHA) | More |
| MSUDDBT | Maple Syrup Urine Disease Type II (Sequence Analysis of D... | More |
| FBN1DELGEN | Marfan syndrome (deletion/duplication analysis on FBN1 gene) | More |
| MSFB | Marfan syndrome (sequence analysis of FBN1 gene) | More |
| SIL1SEQMS | Marinesco-Sjögren syndrome (sequence analysis of SIL1 gene) | More |
| MCAGNASGEN | McCune-Albright Syndrome (somatic mutations at codon 201 ... | More |
| TMEM216MS2 | Meckel syndrome 2 (sequence analysis of TMEM216 gene) | More |
| RPGRIP1LM5 | Meckel syndrome 5 (sequence analysis of RPGRIP1L gene) | More |
| TCTN2SQ8 | Meckel syndrome 8 (sequence analysis of TCTN2 gene) | More |
| TMEM67MS3 | Meckel syndrome type 3 (sequence analysis of TMEM67 gene) | More |
| MKS1SEQ | Meckel syndrome type I (sequence analysis of MKS1 gene) | More |
| UMODGENE | Medullary cystic kidney disease, autosomal dominant | Hyp... | More |
| TP53DSM | Medulloblastoma | Chronic lymphocytic leukemia (detetion ... | More |
| HEPACAMSEQ | Megalencephalic leukoencephalopathy with subcortical cyst... | More |
| CUBNSEQ | Megaloblastic anemia-1, Finnish type (sequence analysis o... | More |
| AMNSEQMA | Megaloblastic anemia-1, Norwegian type (sequence analysis... | More |
| SERAC1SQGE | MEGDEL Syndrome (sequence Analysis Of SERAC1 Gene) | More |
| ORC1SEQ | Meier-Gorlin syndrome 1 (sequence analysis of ORC1 gene) | More |
| MTTL1GENE | MELAS syndrome (sequence analysis of MTTL1 gene) | More |
| ATP7ADEL | Menkes Disease (Deletion/Duplication Analysis on ATP7A Gene) | More |
| OPHN1SEQXL | Mental retardation with cerebellar hypoplasia, X-linked (... | More |
| NGS89MR | Mental retardation, X-linked (NGS panel for 89 genes) | More |
| UBE2ASEQ | Mental retardation, X-linked syndromic, Nascimento-type (... | More |
| PHF8SEQ | Mental retardation, X-linked, Siderius type(PHF8 Seq Anal) | More |
| MTTKFREQ | MERRF Syndrome (sequence analysis of A8344G mutation on M... | More |
| MTTS1GENE | MERRF/MELAS overlap syndrome (sequence analysis of MTTS1 ... | More |
| MTTS2GENE | MERRF/MELAS overlap syndrome (sequence analysis of MTTS2 ... | More |
| BHLHA9SQ | Mesoaxial synostotic syndactyly with phalangeal reduction... | More |
| ARSADEL | Metachromatic leukodystrophy (deletion/duplication analys... | More |
| ARSASEQ | Metachromatic Leukodystrophy (Sequence Analysis of ARSA G... | More |
| COL10A1SQS | Metaphyseal chondrodysplasia, Schmid type (MCDS, sequence... | More |
| RMRPGENE | Metaphyseal dysplasia without hypotrichosis (sequence ana... | More |
| MAT1ASEQ | Methionine adenosyltransferase deficiency, AR (sequence a... | More |
| MET6Q24MLP | Methylation Analysis on 6q24 region by ms-MLPA | More |
| MUTGEN | Methylmalonic Aciduria (Sequence Analysis of MUT Gene) | More |
| MMACHCSQCB | Methylmalonic aciduria and homocystinuria, cblC type (seq... | More |
| MMAASEQ | Methylmalonic aciduria, vitamin B12-responsive (sequence ... | More |
| RNU4ATAC | Microcephalic osteodysplastic primordial dwarfism type I ... | More |
| PCNT2SEQ | Microcephalic osteodysplastic primordial dwarfism, type I... | More |
| MCPH1SEQ | Microcephaly 1, primary, AR (sequence analysis of MCPH1 g... | More |
| NGS53MIPON | Microcephaly and pontocerebellar hypoplasia(NGS panel for... | More |
| KIF11SEMR | Microcephaly with or without chorioretinopathy, lymphedem... | More |
| OTX2SQMIC | Microphthalmia (sequence analysais of OTX2 gene) | More |
| VSX2SEQ | Microphthalmia isolated 2 (sequence analysis of VSX2 gene) | More |
| HCCSSQS7 | Microphthalmia syndromic 7 (sequence analysis of HCCS gene) | More |
| MACPCGC | Microphthalmia, Anophthalmia and Coloboma Panel - Geneti... | More |
| MICROINS | Microsatellite Instability | More |
| MYO5BSEQ | Microvillus inclusion disease (sequence analysis of MYO5B... | More |
| TYMPSEQ | Mitochondrial DNA depletion syndrome 1 (MNGIE type) (sequ... | More |
| POLGGENE | Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (... | More |
| SUCLA2GENE | Mitochondrial DNA Depletion Syndrome 5 (sequence analysis... | More |
| DGUOKSEQ | Mitochondrial DNA depletion syndrome, hepatocerebral type... | More |
| MTTDGENE | Mitochondrial myopathy, isolated (sequence analysis of MT... | More |
| NGS13MODY | MODY (NGS panel for 13 genes) | More |
| HNF4ASEQ | MODY 1 (sequence analysis of HNF4A gene) | More |
| GCKSQM2 | MODY 2 (sequence analysis of GCK gene) | More |
| HNF1ASQM3 | MODY 3 (sequence analysis of HNF1A gene) | More |
| PDX1SQM4 | MODY 4 (sequence analysis of PDX1 gene) | More |
| KLF11SQM7 | MODY 7 (sequence analysis of KLF11 gene) | More |
| CELSQM8 | MODY 8 (sequence analysis of CEL gene) | More |
| MODYPCGC | MODY Panel - Genetic Testing | More |
| RFX6SEQ | MODY RFX6 related (sequence analysis of RFX6 gene) | More |
| ZFP57SEQ | MODY ZFP57 related (sequence analysis of ZFP57 gene) | More |
| TIMM8ASEQ | Mohr-Tranebjaerg syndrome (sequence analysis of TIMM8A gene) | More |
| MOCS1SEQ | Molybdenum cofactor deficiency A (sequence analysis of MO... | More |
| MOCS2SEQ | Molybdenum cofactor deficiency B (sequence analysis of MO... | More |
| GPHNSEQ | Molybdenum cofactor deficiency C (sequence analysis of GP... | More |
| LEPSEQ | Morbid obesity (sequence analysis of LEP gene) | More |
| LEPRSEQ | Morbid obesity (sequence analysis of LEPR gene) | More |
| GNPTABSEQ | Mucolipidosis III (sequence analysis of GNPTAB gene) | More |
| IDSSEQ | Mucopolysaccharidosis II (sequence analysis of IDS gene) | More |
| MUCOGENE | Mucopolysaccharidosis IVA (Sequence Analysis of GALNS Gene) | More |
| SGSHSEQ | Mucopolysaccharidosis type IIIA (Sanfilippo A, sequence a... | More |
| HGSNATSEQ | Mucopolysaccharidosis type IIIC (Sanfilippo C, sequence a... | More |
| GNSSEQ | Mucopolysaccharidosis type IIID (sequence analysis of GNS ge | More |
| HYAL1SEQ | Mucopolysaccharidosis type IX (sequence analysis of HYAL1... | More |
| ARSBSEQ | Mucopolysaccharidosis type VI (Maroteaux-Lamy, sequence a... | More |
| GUSBSEQ | Mucopolysaccharidosis type VII (sequence analysis of GUSB... | More |
| FGFR3GENE | Muenke Syndrome (Pro250Arg Mutation on FGFR3 Gene) | More |
| WNT4SEQ | Mullerian aplasia and hyperandrogenism (sequence analysis... | More |
| MMP2SEQMO | Multicentric osteolysis, nodulosis and arthropathy (seque... | More |
| MEN1SEQT1 | Multiple endocrine neoplasia type 1 (sequence analysis of... | More |
| CDKN1BSQIV | Multiple endocrine neoplasia type IV (sequence analysis o... | More |
| EXT1SEQ | Multiple exostoses (sequence analysis of EXT1 gene) | More |
| CHRNGSEQ | Multiple pterygium syndrome (sequence analysis of CHRNG g... | More |
| POMGNT1SEQ | Muscle-eye-brain disease (sequence analysis of POMGNT1 gene) | More |
| LAMA2MD | Muscular dystrophy, lamin/merosin deficiency (sequence an... | More |
| GFPT11SEQ | Myasthenia congenital with tubular aggregates 1 (sequence... | More |
| CHRNESEQ | Myasthenic congenital syndrome (sequence analysis of CHRN... | More |
| NGS17MYAST | Myasthenic syndrome, congenital (NGS panel of 17 genes) | More |
| CHATSEQ | Myasthenic syndrome, congenital (sequence analysis of CHA... | More |
| SRSF2MNSEQ | Myeloid neoplasia, somatic (sequence analysis of SRSF2 gene) | More |
| DNMT3ASQMN | Myeloid neoplasm, somatic (sequence analysis of DNMT3A gene) | More |
| MYELODSM | Myeloproliferative syndrome [detection of somatic mutatio... | More |
| SGCESEQ | Myoclonic dystonia 11 (DYT11, sequence analysis of SGCE gene | More |
| SCN1ASEQDS | Myoclonic epilepsy of infancy, severe (Dravet syndrome, s... | More |
| CACNB4SEQ | Myoclonic epilepsy, juvenile (sequence analysis of CACNB4... | More |
| MTTQGENE | Myopathy (sequence analysis of MTTQ gene) | More |
| MTTMGENE | Myopathy, mitochondrial (sequence analysis of MTTM gene) | More |
| CLCN1DEL | Myotonia congenita (deletion/duplication analysis on CLCN... | More |
| MYODY2 | Myotonic dystrophy type 2 (CCTG expansion on CNBP/ZNF9 gene) | More |
| DMPKGEN | Myotonic Dystrophy Type I (Steinert Disease, DM1, CTG Exp... | More |
| TNNT1SEQ | Nemaline myopathy 5 (sequence analysis of TNNT1 gene) | More |
| AQP2SEQ | Nephrogenic diabetes insipidus (sequence analysis of AQP2... | More |
| SLC34A1SEQ | Nephrolithiasis/osteoporosis, hypophosphatemic 1 (sequenc... | More |
| NPHP1SEQ | Nephronophthisis 1 (sequence analysis of NPHP1 gene) | More |
| ZNF423SEQ | Nephronophthisis 14 (sequence analysis of ZNF423 gene) | More |
| CEP164SQ15 | Nephronophthisis 15 (sequence analysis of CEP164 gene) | More |
| NPHP3SEQ | Nephronophthisis 3 (sequence analysis of NPHP3 gene) | More |
| NPHP4SEQN4 | Nephronophthisis 4 (sequence analysis of NPHP4 gene) | More |
| NEK8SQN9 | Nephronophthisis 9 (sequence analysis of NEK8 gene) | More |
| NPHP1DELT1 | Nephronophthisis type 1 (deletion/duplication analysis on... | More |
| INVSSEQT2 | Nephronophthisis type 2 (NPHP2, sequence analysis of INVS... | More |
| XPNPEP3SEQ | Nephronophthisis-like nephropathy 1 (sequence analysis of... | More |
| CFHR5SEQ | Nephropathy due to CFHR5 deficiency (sequence analysis of... | More |
| NPHS1SEQT1 | Nephrotic syndrome type 1, congenital (Finnish type, sequ... | More |
| NPHS2SEQT2 | Nephrotic syndrome type 2 (sequence analysis of NPHS2 gene) | More |
| PLCE1SEQT3 | Nephrotic syndrome type 3 (sequence analysis of PLCE1 gene) | More |
| WT1SEQT4 | Nephrotic syndrome type 4 (sequence analysis of WT1 gene) | More |
| LAMB2SEQT5 | Nephrotic syndrome type 5 (sequence analysis of LAMB2 gene) | More |
| ARHGDIASQ8 | Nephrotic syndrome type 8 (sequence analysis of ARHGDIA g... | More |
| SPINK5SQNS | Netherton syndrome (sequence analysis of SPINK5 gene) | More |
| ALKSEQ | Neuroblastoma (sequence analysis of ALK gene) | More |
| PNKPLA2DEL | Neurodegeneration with Brain Iron Accumulation (Deletion/... | More |
| PANK2SQA1 | Neurodegeneration with Brain Iron Accumulation 1 (NBIA1, ... | More |
| WDR45SEQ | Neurodegeneration with brain iron accumulation 5 (sequenc... | More |
| NDDPCGC | Neurodegenerative Disorders Panel - Genetic Testing | More |
| NF1DELGEN | Neurofibromatosis Type 1 (deletion/duplication Analysis O... | More |
| NF1SEQT1 | Neurofibromatosis Type 1 (Sequence Analysis of NF1 Gene) | More |
| NF1SEQCNV | Neurofibromatosis Type 1 (Sequencing & CNV Analyses of NF1) | More |
| NF2DELTII | Neurofibromatosis type II (deletion/duplication analysis ... | More |
| NMDPCGC | Neuromuscular Disorders Panel - Genetic Testing | More |
| TPP1SEQ | Neuronal ceroid lipofuscinosis 2 (sequence analysis of TP... | More |
| MFSD8SEQ | Neuronal ceroid lipofuscinosis 7 (CLN7, sequence analysis... | More |
| CLN8SEQ | Neuronal ceroid lipofuscinosis 8 (sequence analysis of CL... | More |
| NOPCGC | Neuro-Ophthalmology Panel - Genetic Testing | More |
| C10ORF2SEQ | Neuropathy with sensory ataxic, dysarthria and progressiv... | More |
| NPD3DELET | Niemann-Pick disease (deletion/duplication analysis on NP... | More |
| NPC12SEQ | Niemann-Pick Disease (Sequence Analysis of NPC1, NPC2 Genes) | More |
| NPC1SEQC1 | Niemann-Pick disease type C1 (sequence analysis of NPC1 g... | More |
| NPC2SEQ | Niemann-Pick disease type C2 (sequence analysis of NPC2 gene | More |
| SMPD1ABSEQ | Niemann-Pick disease types A and B (sequence analysis of ... | More |
| NBNSEQ | Nijmegen breakage syndrome (sequence analysis of NBN gene) | More |
| CHRNA2GENS | Nocturnal Frontal Lobe Epilepsy (sequence Analysis Of CHR... | More |
| TECTAGENE | Non Syndromic Deafness (deletion/dplucation Analysis On T... | More |
| NGS20NOB | Nonsyndromic obesity (NGS panel of 20 genes) | More |
| NRPCGC | Noonan and RASopathies Panel - Genetic Testing | More |
| KRASSEQ | Noonan syndrome (sequence analysis of KRAS gene) | More |
| PTPN11SEQ | Noonan syndrome (sequence analysis of PTPN11 gene) | More |
| RIT1SEQ | Noonan syndrome (sequence analysis of RIT1 gene) | More |
| SOS1SEQ | Noonan syndrome (sequence analysis of SOS1 gene) | More |
| SHOC2SEQNL | Noonan-like syndrome (sequence analysis of SHOC2 gene) | More |
| NDPSEQ | Norrie disease (sequence analysis of NDP gene) | More |
| NPM1MUT | NPM1 Mutation Analysis | More |
| NEMDPCGC | Nuclear-Encoded Mitochondrial Disorders Panel - Genetic ... | More |
| FRMD7SQCI | Nystagmus 1, congenital idiopathic (sequence analysis of ... | More |
| MC3RSEQ | Obesity (sequence analysis of MC3R gene) | More |
| POMCSEQ | Obesity (sequence analysis of POMC gene) | More |
| RP1L1SEQ | Occult macular dystrophy (sequence analysis of RP1L1 gene) | More |
| GPR143SEQ | Ocular albinism type I (sequence analysis of GPR143 gene) | More |
| TYRP1SEQ | Ocular albinism type III (sequence analysis of TYRP1 gene) | More |
| SLC45A2SEQ | Ocular albinism type IV (OCA4, sequence analysis of SLC45A2 | More |
| MC1RSEQT2 | Oculocutaneous albinism type 2, modifier | melanoma, cuta... | More |
| GJA1SEQOD | Oculodentodigital dysplasia (sequence analysis of GJA1 gene) | More |
| PABPN1GCG | Oculopharyngeal muscular dystrophy (GCG expansion on PABP... | More |
| SAGSEQ | Oguchi disease 1 (sequence analysis of SAG gene) | More |
| OFISH | OncoFISH For AML (7 Probes - t(15;17), inv(16), t(8;21), ... | More |
| CLL5ONCOF | OncoFISH for CLL (13q-, 11q-, 17p-, +12, IGH) | More |
| LLAONCOF | OncoFISH For LLA (7 probes - t(9;22), t(12;21), KMT2A 11q... | More |
| ONCOF3 | OncoFISH for MDS (5q-, 7q-, 20q-) | More |
| MDS3ONCOF | OncoFISH for MDS (5q-, 7q-, 20q-, cen8) | More |
| ONFMM4 | OncoFISH for MM (13q-, 17p-, t(4;14), t(11;14)) | More |
| ONCOMM | OncoFISH for Ploidy in MM (Centromere 9 and 15) | More |
| HOX2BDELGE | Ondine Syndrome (deletion/duplication Analysis On PHOX2B ... | More |
| OPA1DEL | Optic atrophy 1 (deletion/duplication analysis of OPA1 gene) | More |
| OPA3SQO3 | Optic atrophy 3 (sequence analysis of OPA3 gene) | More |
| TMEM126ASQ | Optic atrophy 7 (sequence analysis of TMEM126A gene) | More |
| OPA1SEQ | Optic atrophy type 1 (sequence analysis of OPA1 gene) | More |
| OFD1SEQ | Oral-facial-digital syndrome 1 (sequence analysis of OFD1 ge | More |
| OTCSEQOTD | Ornithine transcarbamylase deficiency (sequence analysis ... | More |
| MSX1GEN | Orofacial cleft 5 (sequence analysis of MSX1 gene) | More |
| ENGSEQ | Osler-Rendu-Weber disease (sequence analysis of ENG gene) | More |
| NGS16OI | Osteogenesis imperfecta (NGS panel for 16 genes) | More |
| COL1A2SEQ | Osteogenesis Imperfecta (Sequence Analysis of COL1A2 Gene) | More |
| PPIBSQTIX | Osteogenesis imperfecta type IX (sequence analysis of PPI... | More |
| IFITM5GEN | Osteogenesis imperfecta type V (sequence analysis of IFIT... | More |
| CRTAPSEQT7 | Osteogenesis imperfecta type VII (sequence analysis of CR... | More |
| LEPRE1SQ8 | Osteogenesis imperfecta type VIII (sequence analysis of L... | More |
| FKBP10SQ11 | Osteogenesis imperfecta type XI (sequence analysis of FKB... | More |
| SP7SQT12 | Osteogenesis imperfecta type XII (sequence analysis of SP... | More |
| BMP1SQT13 | Osteogenesis imperfecta type XIII (sequence analysis of B... | More |
| AMER1SEQ | Osteopathia striata with cranial sclerosis (sequence anal... | More |
| CA2OSTT3 | Osteopetrosis type 3 (c.232+1G>A mutation on CA2 gene, ar... | More |
| CA2SEQ | Osteopetrosis with renal tubular acidosis 3, AR (sequence... | More |
| PANCCPCGC | Pancreatic cancer Panel - Genetic Testing | More |
| PANC4GENE | Pancreatitis Hereditary NGS Panel of 4 Genes | More |
| PRSS1SEQ | Pancreatitis, Hereditary (Sequence Analysis of PRSS1 Gene) | More |
| SPINK1SEQ | Pancreatitis, Hereditary (Sequence Analysis of SPINK1 Gene) | More |
| PPPCGC | Paraganglioma-Pheochromocytoma Panel - Genetic Testing | More |
| ATP13A2SEQ | Parkinson Disease 9 (PARK9, sequence analysis of ATP13A2 ... | More |
| PDPCGC | Parkinson's Disease Panel - Genetic Testing | More |
| AMHSEQT1 | Persistent Mullerian duct syndrome type I (sequence analy... | More |
| AMHR2SQTII | Persistent Mullerian duct syndrome type II (sequence anal... | More |
| PITX2SEQ | Peters anomaly (sequence analysis of PITX2 gene) | More |
| B3GALTLPP | Peters-plus syndrome (frequent mutations of B3GALTL gene) | More |
| B3GALTLSEQ | Peters-plus syndrome (sequence analysis of B3GALTL gene) | More |
| STK11SEQPJ | Peutz-Jeghers Syndrome (Sequence Analysis of STK11 Gene) | More |
| ABHD12SQRP | Polyneuropathy, hearing loss, ataxia, retinitis pigmentos... | More |
| PWAS | Prader-Willi/Angelman Syndrome (Methylation and Deletion/... | More |
| C3SEQPRIMI | Primary immunodeficiency (sequence analysis of C3 gene) | More |
| ASPMSEQ | Primary microcephaly type 5, AR (sequence analysis of ASP... | More |
| BMPR2SQPPH | Primary pulmonary hypertension (sequence analysis of BMPR... | More |
| PCCAGEN | Propionic Acidemia (Sequence Analysis of PCCA Gene) | More |
| PCCBSAGEN | Propionic Acidemia (Sequence Analysis of PCCB Gene) | More |
| PROSCPCGC | Prostate Cancer Panel - Genetic Testing | More |
| AKT1GENFSM | Proteus syndrome (frequent somatic mutation, p.Glu17Lys o... | More |
| ABCC6SQPE | Pseudoxanthoma elasticum (sequence analysis of ABCC6 gene) | More |
| ABCA3SEQ | Pulmonary surfactant metabolism dysfunction (sequence ana... | More |
| RCPCGC | Renal Cancer Panel - Genetic Testing | More |
| ATP6V1B1SQ | Renal tubular acidosis, distal (sequence analysis of ATP6... | More |
| ATP6V0A4SQ | Renal tubular acidosis, distal, AR (sequence analysis of ... | More |
| AGTSEQ | Renal tubular dysgenesis (sequence analysis of AGT gene) | More |
| RDPCGC | Retinal Dystrophy Panel - Genetic Testing | More |
| CERKLGENE | Retinitis pigmentosa (p.R283 mutation on CERKL gene) | More |
| CA4SEQ | Retinitis pigmentosa 17 (sequence analysis of CA4 gene) | More |
| CERKLSEQ | Retinitis pigmentosa 26 (sequence analysis of CERKL gene) | More |
| C2ORF71SEQ | Retinitis pigmentosa 54 (sequence analysis of C2ORF71 gene) | More |
| ARL6SEQ | Retinitis Pigmentosa 55 (Sequence analysis of ARL6 gene) | More |
| RPPCGC | Retinitis Pigmentosa Panel - Genetic Testing | More |
| CDKL5DEL | Rett syndrome, atypical (deletion/duplication analysis of... | More |
| AGPSSEQ | Rhizomelic chondrodysplasia punctata type 3 (sequence ana... | More |
| PDGFRARTPC | RT-PCR FIP1L1-PDGFRA | More |
| T821RTPCR | RT-PCR t(8;21)(AML1/ETO) | More |
| ATRSQSS1 | Seckel syndrome 1 (sequence analysis of ATR gene) | More |
| ATP5ESEQ | sequence analysis of ATP5E gene | More |
| CASP8SEQ | Sequence analysis of CASP8 gene | More |
| CDKN2ASEQ | Sequence analysis of CDKN2A gene | More |
| CDKN2CSEQ | sequence analysis of CDKN2C gene | More |
| FGFR3SEQ | Sequence Analysis of FGFR3 Gene | More |
| INSRSEQ | Sequence Analysis of INSR Gene | More |
| ADASEQ | Severe combined immunodeficiency due to ADA deficiency (s... | More |
| ACADSSQDD | Short-chain acyl-CoA dehydrogenase deficiency (sequence a... | More |
| SRSDELGEN | Silver-Russell Syndrome (Deletion/Duplication Analysis on... | More |
| ALDH3A2SEQ | Sjogren-Larsson syndrome (sequence analysis of ALDH3A2 gene) | More |
| SDDPCGC | Skeletal Dysplasias and Disorders Panel - Genetic Testing | More |
| ACTASMD | Smooth muscle dysfunction (R179H mutation on ACTA2 gene) | More |
| NSD1DEL | Sotos Syndrome (Delection/Duplication of NSD1 Gene) | More |
| NSD1SEQ | Sotos Syndrome (Sequence AnalysisoOf NSD1 Gene) | More |
| BSCL2SEQ | Spastic paraplegia 17 (SPG17, sequence analysis of BSCL2 ... | More |
| SMASMN1 | Spinal Muscular Atrophy (Deletion/Duplication on SMN1 Gene) | More |
| ATXN2SA2 | Spinocerebellar Ataxia 2 (SCA2, CAG expansion on ATXN2 gene) | More |
| CACNA1ASA6 | Spinocerebellar Ataxia 6 (SCA6, CAG Expansion on CACNA1A ... | More |
| ATXN7SA7 | Spinocerebellar Ataxia 7 (SCA7, CAG expansion on ATXN7 gene) | More |
| ACTN3ARG57 | Sports performance (Arg577Ter (rs1815739) polimorphism of... | More |
| COL2A1DELE | Stickler Syndrome Type 1 (Deletion/Duplication Analysis o... | More |
| FVS1AL | Study of a variant from another lab (one variant , Sanger... | More |
| BICC1SEQ | Susceptibility to cystic renal dysplasia (sequence analyi... | More |
| TCRBGEN | TCRB Clonal Rearrangement | More |
| C12ORF57SE | Temtamy syndrome (sequence analysis of C12ORF57 gene) | More |
| TPMTSQGEN | Thiopurine S-methyltransferase Deficiency (Sequence Analy... | More |
| RBM8ADELTA | Thrombocytopenia-Absent Radius Syndrome (TAR, Deletion/Du... | More |
| RBM8ASEQTA | Thrombocytopenia-Absent Radius Syndrome (TAR, Sequence An... | More |
| TPCGC | Thrombophilia Panel - Genetic Testing | More |
| ADAMTS13SQ | Thrombotic thrombocytopenic purpura (sequence analysis of... | More |
| TCOF1DEL | Treacher-Collins Syndrome (Deletion/Duplication Analysis ... | More |
| TCOF1SEQ | Treacher-Collins Syndrome (Sequence Analysis of TCOF1 Gene) | More |
| AAASSEQ | Triple A syndrome (sequence analysis of AAAS gene) | More |
| TATSEQ | Tyrosinemia Type II (Sequence Analysis of TAT Gene) | More |
| FAHSEQT1 | Tyrosinemia, Type I (Sequence Analysis of FAH Gene) | More |
| MSMLPACR7 | Uniparental disomy of chromosome 7 (MS-MLPA) | More |
| CDH23SEQ | Usher syndrome type 1D/F (sequence analysis of CDH23 gene) | More |
| ACADVLGENE | VLCAD Deficiency (deletion/duplication On ACADVL Gene) | More |
| VLCADSQGEN | VLCAD Deficiency (Sequence Analysis of ACADVL Gene) | More |
| VHLSEQ | Von Hippel-Lindau Syndrome (Sequence Analysis of VHL Gene) | More |
| MYD88GENE | Waldenström Macroglobulinemia (Detection of p.Leu265Pro S... | More |
| WESGENE | WES By CGC Genetics (Whole Exome Sequencing, Including CN... | More |
| ATP7BDEL | Wilson disease (deletion/duplication analysis on ATP7B gene) | More |
| XPCSEQGEN | Xeroderma Pigmentosum Disease (Sequence Analysis of XPC g... | More |
| XIDPCGC | X-linked Intellectual Disability Panel - Genetic Testing | More |
| ALAS2SEQ | X-linked sideroblastic anemia (sequence analysis of ALAS2... | More |
| TOMBAS | TOMORROW BASIC (21,18,13, gender optional) | More |
| TOMPLUS | TOMORROW PLUS (21,18,13,XY, gender optional) | More |
| TOMGENOME | TOMORROW GENOME (21,18,13,XY, microdeletions, gender optio | More |
| CHRFIBRO | Chromosome Analysis of Fibroblasts | More |
| PREOF | Premature Ovarian Failure (FMR1 Gene, Conventional PCR) | More |
| TCRGGEN | TCRG Clonal Rearrangement | More |
| T922RTPCR | RT-PCR T(9;22)(BCR/ABL) | More |
| TCRDCLON | TCRD clonal rearrangement | More |
| GJB6DYSP2 | Hidrotic ectodermal dysplasia 2 (sequence analysis of GJB... | More |
| GUCY2DSEQ | Central areolar choroidal dystrophy (Sequence analysis of... | More |
| MLC1SEQ | Megalencephalic leukoencephalopathy with subcortical cyst... | More |
| OHFREGEN21 | 21-hydroxylase Deficiency (frequent mutations and deletio... | More |
| WDR35SEQ | Cranioectodermal dysplasia (sequence analysis of WDR35 gene) | More |
| FISHEWSR1 | Detection By FISH Of EWSR1 Rearrangements (sarcoma Ewing) | More |
| BRCA12GEN | Familial Breast/ovarian Cancer (deletion/duplication anal... | More |
| BRCA1GENE | Familial Breast/ovarian Cancer (deletion/duplication anal... | More |
| BRCA2DEL | Familial Breast/ovarian Cancer (deletion/duplication anal... | More |
| NGS16MACRO | Macrocephaly (NGS panel of 16 genes) | More |
| COL1A12SEQ | Osteogenesis imperfecta, type 1, 2, 3 and 4 (sequence ana... | More |
| TCIRG1SEQO | Osteopetrosis (sequence analysis of TCIRG1 gene) | More |
| LRP5SQT1 | Osteopetrosis autosomal dominant type 1 (sequence analysi... | More |
| TNFSF11SQ2 | Osteopetrosis, autosomal recessive 2 (sequence analysis o... | More |
| OSTM1SEQ5 | Osteopetrosis, autosomal recessive 5 (sequence analysis o... | More |
| PLEKHM1SEQ | Osteopetrosis, autosomal recessive 6 (sequence analysis o... | More |
| LRP5SEQOP | Osteoporosis - pseudoglioma (sequence analysis of LRP5 gene) | More |
| FLNASEQ | Otopalatodigital syndrome (sequence analysis pf FLNA gene) | More |
| GJC2SQPM | Palizaeus-Merzbacher-like disease (sequence analysis of G... | More |
| GLI3DEL | Pallister Hall syndrome (deletion/duplication analysis on... | More |
| KRT9SEQEP | Palmoplantar keratoderma, epidermolytic (sequence analysi... | More |
| PALLDP239S | Pancreatic cancer, susceptibility to, 1 (P239S mutation o... | More |
| PRSS1SPINK | Pancreatitis, hereditary (deletion/duplication analysis o... | More |
| NGS4PANCH | Pancreatitis, hereditary (NGS panel of 4 genes) | More |
| SOX3SEQ | Panhypopituitarism, X-linked (sequence analysis of SOX3 g... | More |
| CTSCSQGENE | Papillon-Lefevre syndrome |Haim-Munk syndrome| Juvenile P... | More |
| SDHBSEQ | Paragangliomas 4 (sequence analysis of SDHB gene) | More |
| PARK2SEQ2 | Parkinson disease 2 (PARK2, sequence analysis of PARK2 gene) | More |
| PARK7DJ1SQ | Parkinson disease 7 (PARK7, sequence analysis of PARK7/DJ... | More |
| LRRK2SEQ | Parkinson disease 8 (PARK8, sequence analysis of LRRK2 gene) | More |
| NGS56PDP | Parkinson disease and parkinsonism (NGS panel of 56 genes) | More |
| PINK1SEQ | Parkinson disease type 6 (PARK6, sequence analysis of PIN... | More |
| LRRK2GENE | Parkinson disease type 8 (PARK8, sequence analysis of exo... | More |
| PIGASEQPNH | Paroxysmal nocturnal hemoglobinuria (sequence analysis of... | More |
| MR1SEQPND | Paroxysmal nonkinesigenic dyskinesia (sequence analysis o... | More |
| PNKDSEQ | Paroxysmal nonkinesigenic dyskinesia 1 (sequence analysis... | More |
| PLP1DEL | Pelizaeus-Merzbacher Disease (deletion/duplicaction analy... | More |
| PLP1SEQ | Pelizaeus-Merzbacher disease (sequence analysis of PLP1 g... | More |
| DOK7SEQ | Pena-Shokeir syndrome type 1 (sequence analysis of DOK7 g... | More |
| ERCC6SEQT2 | Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 ... | More |
| SLC26A4DEL | Pendred syndrome (deletion/duplication analysis on SLC26A... | More |
| SLC26A4SEQ | Pendred syndrome (sequence analysis of SLC26A4 gene) | More |
| NGS8PFS | Periodic Fever Syndrome (NGS panel of 8 genes) | More |
| FLNASEQGEN | Periventricular Heterotopia | Otopalatodigital syndrome (... | More |
| DIS3L2SEQ | Perlman syndrome (sequence analysis of DIS3L2 gene) | More |
| HSD17B4SEQ | Perrault syndrome 1 (PRLTS1, sequence analysis of HSD17B4... | More |
| HARS2SEQ | Perrault syndrome 2 (PRLTS2, sequence analysis of HARS2 g... | More |
| CLPPSEQ | Perrault syndrome 3 (PRLTS3, sequence analysis of CLPP gene) | More |
| LARS2SEQ | Perrault syndrome 4 (PRLTS4, sequence analysis of LARS2 g... | More |
| PHPVAR | Persistent hyperplastic primary vitreous, AR (sequence an... | More |
| FGFR1SEQ | Pfeiffer syndrome (sequence analysis of FGFR1 gene) | More |
| FGFR2SEQPS | Pfeiffer syndrome (sequence analysis of FGFR2 gene) | More |
| PHARMAO | Pharmacogenetics of Antiangiogenics in Ophthalmology | More |
| PAHSEQ | Phenylketonuria (sequence analysis of PAH gene) | More |
| SDHBSQPHEO | Pheochromocytoma (sequence analysis of SDHB gene) | More |
| SDHDSQPHEO | Pheochromocytoma (sequence analysis of SDHD gene) | More |
| PIESGENE | Piebaldism (Sequence Analysis of KIT Gene) | More |
| PROP1SEQ | Pituitary hormone deficiency 2, combined (sequence analys... | More |
| HESX1SEQ | Pituitary hormone deficiency, combined 5 (sequence analys... | More |
| POU1F1SEQ | Pituitary hormone deficiency, combined, 1 (sequence analy... | More |
| LHX3SEQ | Pituitary hormone deficiency, combined, 3 (sequence analy... | More |
| LHX4SEQ | Pituitary hormone deficiency, combined, 4 (sequence analy... | More |
| PMLRARFGQ | PML/RARa fusion gene quantification | More |
| PKDNGS | Polycystic Kidney Disease (NGS panel of 6 genes, analysis... | More |
| PKD1SEQ | Polycystic kidney disease AD (sequence analysis of PKD1 g... | More |
| PKD2SEQ | Polycystic kidney disease AD (sequence analysis of PKD2 g... | More |
| GANABSEQT3 | Polycystic kidney disease type 3 (sequence analysis of GA... | More |
| PRKCSHSEQ | Polycystic liver disease (sequence analysis of PRKCSH gene) | More |
| SEC63SEQ | Polycystic liver disease (sequence analysis of SEC63 gene) | More |
| NGS39POLYM | Polymicrogyria (NGS panel for 39 genes) | More |
| VRK1SEQ | Pontocerebellar hypoplasia type 1A (sequence analysis of ... | More |
| TSEN54SQT2 | Pontocerebellar hypoplasia type 2A (sequence analysis of ... | More |
| COL4A1SEQ | Porencephaly 1 (sequence analysis of COL4A1) | More |
| COL4A2SEQ | Porencephaly 2 (sequence analysis of COL4A2 gene) | More |
| URODSEQPCT | Porphyria cutanea tarda (sequence analysis of UROD gene) | More |
| PPOXSEQ | Porphyria variegata (sequence anaçysis of PPOX gene) | More |
| NDNGENE | Prader-Willi syndrome (sequence analysis of NDN gene) | More |
| SNRPNSEQ | Prader-Willi syndrome (sequence analysis of SNRPN gene) | More |
| PCDNGS | Primary Ciliary Dyskinesia (NGS Panel Of 34 Genes) | More |
| RSPH9GENE | Primary ciliary dyskinesia (p.Lys268del mutation on RSPH9... | More |
| DNAH11SEQ | Primary ciliary dyskinesia (sequence analysis of DNAH11 g... | More |
| HYDINSEQ | Primary ciliary dyskinesia (sequence analysis of HYDIN gene) | More |
| DNAH5SEQ | Primary ciliary dyskinesia 3 (CILD3, sequence analysis of... | More |
| SCN9ASEQ | Primary erythermalgia (sequence analysis of SCN9A gene) | More |
| IRAK4SEQ | Primary immunodeficiency due to IRAK4 deficiency (sequenc... | More |
| NGS12PEO | Progressive external ophthalmoplegia (NGS panel of 12 genes) | More |
| POLG2SEQ | Progressive external ophthalmoplegia 4, AD (sequence ana... | More |
| SLC25A4SEQ | Progressive external ophthalmoplegia with mitochondrial D... | More |
| PCCASEQP | Propionicacidemia (sequence analysis of PCCA gene) | More |
| PSAPSEQ | Prosaposin deficiency (sequence analysis of PSAP gene) | More |
| PROCDELGEN | Protein C Deficiency (deletion/duplication Analysis On PR... | More |
| PROCGENED | Protein C deficiency (sequence analysis of PROC gene) | More |
| PROS1SEQ | Protein S deficiency (sequence analysis of PROS1 gene) | More |
| NOGSEQ | Proximal symphalangism (sequence analysis of NOG gene) | More |
| COMPSQPS | Pseudoachondroplasia (sequence analysis of COMP gene) | More |
| HSD17B3SEQ | Pseudohermaphroditism with gynecomastia (sequence analysi... | More |
| NR3C2SEQ | Pseudohypoaldosteronism type 1 (sequence analysis of NR3C... | More |
| WNK4SEQ | Pseudohypoaldosteronism type IIB (sequence analysis of WN... | More |
| KLHL3SEQ2D | Pseudohypoaldosteronism type IID (sequence analysis of KL... | More |
| GNASSEQ | Pseudohypoparathyroidism type 1A, 1B, 1C | Pseudopseudohy... | More |
| STX16DEL | Pseudohypoparathyroidism type 1B (deletion/duplication an... | More |
| NGS9PULMP | Pulmonary hypertension, primary (NGS panel for 9 genes) | More |
| KCNK3SEQ | Pulmonary hypertension, primary, 4 (sequence analysis of ... | More |
| SFTPBSEQ | Pulmonary surfactant metabolism dysfunction 1 (sequence a... | More |
| PNPSQPNPD | Purine nucleoside phosphorylase deficiency (sequence anal... | More |
| CTSKGENSO | Pycnodysostosis (Sequence Analysis of CTSK gene) | More |
| PNPOSEQ | Pyridoxamine 5'-phosphate oxidase deficiency (sequence an... | More |
| PCSEQPCD | Pyruvate carboxylase deficiency (sequence analysis of PC ... | More |
| PDHA1SQE1 | Pyruvate dehydrogenase E1-alpha deficiency (sequence anal... | More |
| PDHBSEQE1 | Pyruvate dehydrogenase E1-beta deficiency (sequence analy... | More |
| DLATSEQPD | Pyruvate dehydrogenase E2 deficiency (sequence analysis o... | More |
| PKLRSQPKD | Pyruvate kinase deficiency (sequence analysis of PKLR gene) | More |
| TP63SEQ | Rapp-Hodgkin syndrome (sequence analysis of TP63 gene) | More |
| NGSREANA | Reanalysis and interpretation of NGS panels (realignment ... | More |
| WESREALIGN | Reanalysis and interpretation of WES (realignment and rea... | More |
| PEX7SEQ | Refsum disease (sequence analysis of PEX7 gene) | More |
| PHYHSEQ | Refsum disease (sequence analysis of PHYH gene) | More |
| NGS36RENC | Renal calcifications (nephrocalcinosis) (NGS panel of 36 ... | More |
| METSEQFS | Renal cell carcinoma, papillary, 1, familial and somatic ... | More |
| SLC5A2SEQ | Renal glucosuria (sequence analysis of SLC5A2 gene) | More |
| CLDN16SEQ | Renal hypomagnesemia with hypercalciuria and nephrocalcin... | More |
| SLC4A4SEQ | Renal tubular acidosis, proximal, with ocular abnormaliti... | More |
| RENSEQ | Renal tubular dysgenesis (sequence analysis of REN gene) | More |
| SCL19A1M | Resistance to methotrexate (pontual mutations on SLC19A1 ... | More |
| RP1SEQ | Retinitis pigmentosa 1, AD (sequence analysis of RP1 gene) | More |
| IMPDH1SEQ | Retinitis pigmentosa 10 (sequence analysis of IMPDH1 gene) | More |
| PRPF31SEQ | Retinitis pigmentosa 11 (sequence analysis of PRPF31 gene) | More |
| CRB1SEQ | Retinitis pigmentosa 12 (sequence analysis of CRB1 gene) | More |
| PRPF8SEQ | Retinitis pigmentosa 13, AD (sequence analysis of PRPF8 g... | More |
| TULP1SEQ | Retinitis pigmentosa 14, AR (sequence analysis of TULP1 g... | More |
| RP2SEQ | Retinitis pigmentosa 2, X-linked (sequence analysis of RP... | More |
| EYSDELDUP | Retinitis pigmentosa 25, AR (delection/duplication analys... | More |
| FAM161ASEQ | Retinitis pigmentosa 28 (sequence analysis of FAM161A gene) | More |
| RPGRSEQ | Retinitis pigmentosa 3 (sequence analysis of RPGR gene) | More |
| FSCN2SEQ | Retinitis pigmentosa 30 (sequence analysis of FSCN2 gene) | More |
| TOPORSSEQ | Retinitis pigmentosa 31 (sequence analysis of TOPORS gene) | More |
| MERTKSEQ | Retinitis pigmentosa 38 (sequence analysis of MERTK gene) | More |
| TETPIG4 | Retinitis pigmentosa 4 (delection/duplication analysis on... | More |
| RHOSEQ | Retinitis pigmentosa 4 (sequence analysis of RHO gene) | More |
| PDE6BSEQ | Retinitis pigmentosa 40 (sequence analysis of PDE6B gene) | More |
| KLHL7SEQ | Retinitis pigmentosa 42 (sequence analysis of KLHL7 gene) | More |
| PDE6ASEQ | Retinitis pigmentosa 43 (sequence analysis of PDE6A gene) | More |
| RGRSEQ | Retinitis pigmentosa 44 (sequence analysis of RGR gene) | More |
| CNGB1SEQ | Retinitis pigmentosa 45 (sequence analysis of CNGB1 gene) | More |
| IDH3BSEQ | Retinitis pigmentosa 46 (sequence analysis of IDH3B gene) | More |
| CNGA1SEQ | Retinitis pigmentosa 49 (sequence analysis of CNGA1 gene) | More |
| IMPG2SEQ | Retinitis pigmentosa 56 (sequence analysis of IMPG2 gene) | More |
| MAKSEQ | Retinitis pigmentosa 62 (sequence analysis of MAK gene) | More |
| RBP3SEQ | Retinitis pigmentosa 66 (sequence analysis of RBP3 gene) | More |
| ROM1SEQ | Retinitis pigmentosa 7 (sequence analysis of ROM1 gene) | More |
| NR2E3SEQ | Retinitis pigmentosa type 37 (sequence analysis of NR2E3 ... | More |
| RDH5SQRPA | Retinitis punctata albescens (sequence analysis of RDH5 g... | More |
| RB1DEL | Retinoblastoma (deletion/duplication analysis on on RB1 gene | More |
| RB1SEQ | Retinoblastoma (sequence analysis of RB1 gene) | More |
| FZD4SEQ | Retinopathy of prematurity (sequence analysis of FZD4 gene) | More |
| RS1SEQ | Retinoschisis (sequence analysis of RS1 gene) | More |
| MECP2DEL | Rett syndrome (deletion/duplication analysis on MECP2 gene) | More |
| MECP2SEQ | Rett syndrome (sequence analysis of MECP2 gene) | More |
| FOXG1DEL | Rett syndrome, congenital variant (deletion/duplication a... | More |
| FOXG1SEQ | Rett syndrome, congenital variant (sequence analysis of F... | More |
| GNPATSEQ | Rhizomelic chondrodysplasia punctata type 2 (RCDP2, seque... | More |
| CYP2R1SEQ | Rickets due to defect in vitamin D 25-hydroxylation (sequ... | More |
| ESCO2SEQ | Roberts syndrome (sequence analysis of ESCO2 gene) | More |
| WNT5ASEQ | Robinow syndrome (sequence analysis of WNT5A gene) | More |
| ROR2SEQ | Robinow syndrome, AR (sequence analysis of ROR2 gene) | More |
| T1119KMT2E | RT-PCR t(11;19) (KMT2A/ENL) | More |
| T1221TELAM | RT-PCR t(12;21)(TEL/AML1) | More |
| T911KMT2F9 | RT-PCR t(9;11) (KMT2A/AF9) | More |
| RTSYNP300 | Rubinstein - Taybi Syndrome (deletion/duplication analysi... | More |
| RTSDELSO | Rubinstein-Taybi syndrome (deletion/duplication analysis ... | More |
| RTSSEQSO | Rubinstein-Taybi syndrome (sequence analysis of CREBBP an... | More |
| CREBBPSQRT | Rubinstein-Taybi syndrome (sequence analysis of CREBBP gene) | More |
| EP300SEQ | Rubinstein-Taybi syndrome (sequence analysis of EP300 gene) | More |
| SLC17A5SQS | Salla disease (sequence analysis of SLC17A5 gene) | More |
| TBCEDEL | Sanjad-Sakati syndrome | Kenny-Caffey syndrome (deletion/... | More |
| TBCEGENE | Sanjad-Sakati syndrome | Kenny-Caffey syndrome (sequence ... | More |
| EMX2SEQ | Schizencephaly (sequence analysis of EMX2 gene) | More |
| UBIAD1SEQ | Schnyder corneal dystrophy (sequence analysis of UBIAD1 g... | More |
| ZAP70SEQ | Selective T-cell defect (sequence analysis of ZAP70 gene) | More |
| IQCB1SQS5 | Senior-Loken syndrome 5 (sequence analysis of IQCB1 gene) | More |
| HESX1SD | Septooptic Dysplasia (Sequence Analysis of HESX1 Gene) | More |
| SMARCAL1SQ | Sequece analysis of SMARCAL1 gene | More |
| MYOCSEQ | Sequence analysis MYOC gene | More |
| CIB2GSEQ | Deafness, autosomal recessive 48 (sequence analysis of CI... | More |
| CRB1SEQG | Sequence analysis of CRB1 gene | More |
| CYP17A1SEQ | Sequence analysis of CYP17A1 gene | More |
| FGF8SEQ | Sequence analysis of FGF8 gene | More |
| GATA4SEQ | Sequence analysis of GATA4 gene | More |
| GPSM2SEQ | Sequence analysis of GPSM2 gene | More |
| HOXA1SEQ | Sequence analysis of HOXA1 gene | More |
| HOXD13SEQ | Sequence analysis of HOXD13 gene | More |
| HSD3B2SEQ | Sequence analysis of HSD3B2 gene | More |
| IDH2SEQ | Sequence analysis of IDH2 gene | More |
| PKD12SEQ | Sequence analysis of PKD1 and PKD2 genes | More |
| PRPH2SEQ | Sequence analysis of PRPH2 gene | More |
| RAF1SEQ | Sequence analysis of RAF1 gene | More |
| RRM2BSEQ | Sequence analysis of RRM2B gene | More |
| SCN4AGSEQ | Sequence analysis of SCN4A gene | More |
| TGFBR2SEQ | Sequence analysis of TGFBR2 gene | More |
| TNFRSF11AS | Sequence analysis of TNFRSF11A gene | More |
| WT1SEQ | Sequence analysis of WT1 gene | More |
| KCNJ10SEQ | SESAME syndrome (sequence anaysis of KCNJ10 gene) | More |
| HAX1SEQN3 | Severe congenital neutropenia 3 (Kostmann disease, sequen... | More |
| G6PC3SEQ | Severe congenital neutropenia type 4 (sequence analysis o... | More |
| KCNH2GENE | Short QT syndrome 3 (deletion/duplication analysis on KCN... | More |
| KCNJ2GENE | Short QT syndrome 3 (deletion/duplication analysis on KCN... | More |
| SHOXDEL | Short stature (deletion/duplication analysis on SHOX gene) | More |
| XRCC4SEQ3 | Short stature, microcephaly, and endocrine dysfunction (s... | More |
| SHOXSEQ | Short stature, X-linked (sequence analysis of SHOX gene) | More |
| SKISEQ | Shprintzen-Goldberg syndrome (sequence analysis of SKI gene) | More |
| SBDSSEQ | Shwachman-Diamond Syndrome (sequence analysis of gene SBDS) | More |
| GPC3SEQ | Simpson-Golabi-Behmel syndrome (sequence analysis of GPC3... | More |
| SKELDYS553 | Skeletal dysplasia (WES based NGS panel for 553 genes) | More |
| DHCR7GENSQ | Smith-Lemli-Opitz Syndrome (deficiency of 7-dehydrocholes... | More |
| RAI1DEL | Smith-Magenis syndrome (deletion/duplication analysis on ... | More |
| TIMP3SEQ | Sorsby fundus dystrophy (sequence analysis of TIMP3 gene) | More |
| NFIXSEQ | Sotos syndrome 2 (sequence analysis of NFIX gene) | More |
| SACSSEQ | Spastic ataxia, Charlevoix-Saguenay type (ARSACS, sequenc... | More |
| SPG11SEQ | Spastic paraplegia 11 (SPG11, sequence analysis of SPG11 ... | More |
| REEP1SEQ | Spastic paraplegia 31 (SPG31, sequence analysis of REEP1 ... | More |
| SPASTSEQ | Spastic paraplegia 4 (SPG4, sequence analysis of SPAST gene) | More |
| SPG7SEQ | Spastic paraplegia type 7 (SGP7, sequence analysis of SPG... | More |
| NANOS1SPGF | Spermatogenic failure 12 (SPGF12, sequence analysis of NA... | More |
| NGS21SMA | Spinal muscular atrophy (NGS panel for 21 genes) | More |
| IGHMBP2SEQ | Spinal muscular atrophy with respiratory distress (sequen... | More |
| UBA1SEQSMA | Spinal muscular atrophy, X-linked, infantile (SMA, sequen... | More |
| WNT10BSEQ | Split-hand/foot malformation 6 (sequence analysis of WNT1... | More |
| FLNBSEQ | Spondylocarpotarsal synostosis (sequence analysis of FLNB... | More |
| HES7SQD4 | Spondylocostal dysostosis 4, AR (sequence analysis of HES... | More |
| MESP2SEQ | Spondylocostal dysostosis type 2 AR (sequence analysis of... | More |
| TRAPPC2SEQ | Spondyloepiphyseal dysplasia tarda (sequence analysis of ... | More |
| CHST3SEQ | Spondyloepiphyseal dysplasia, Omani type (sequence analys... | More |
| NKX32SEQ | Spondylo-megaepiphyseal-metaphyseal dysplasia (sequence a... | More |
| NGS27SD | Spondylometaphyseal dysplasia (NGS panel of 27 genes) | More |
| PROM1SEQ | Stargardt disease 4 (sequence analysis of PROM1 gene) | More |
| STARG15NGS | Stargardt disease and macular dystrophy (NGS panel of 15 ... | More |
| ELOVL4SEQ | Stargardt disease type 3 (sequence analysis of ELOVL4 gene) | More |
| NGS6STICK | Stickler syndrome (NGS panel of 6 genes) | More |
| COL2A12SEQ | Stickler syndrome (sequence analysis of COL2A1 gene) | More |
| COL11A1SQT | Stickler syndrome type 2 (sequence analysis of COL11A1 gene) | More |
| GNAQSWS | Sturge-Weber syndrome (mutation p.Arg183Gln on GNAQ gene) | More |
| LIFRSEQ | Stuve-Wiedemann syndrome (sequence analysis of LIFR gene) | More |
| OXCT1SQCOA | Succinyl CoA:3-oxoacid CoA transferase deficiency (sequen... | More |
| SUMF1SEQ | Sulfatase deficiency (sequence analysis of SUMF1 gene) | More |
| SUOXSEQ | Sulfite oxidase deficiency (sequence analysis of SUOX gene) | More |
| ELNSEQ | Supravalvar aortic stenosis (sequence analysis of ELN gene) | More |
| DEL6HIV1 | Susceptibility and resistance to HIV1 infection ( deletio... | More |
| CYP1A2SEQ | Susceptibility to adverse reaction due to clozapine (sequ... | More |
| WARFSUS | Susceptibility to warfarin (CYP2C9 and VKORC1 genes) | More |
| IGHBCL1 | t(11;14)(IGH/BCL1) Rearrangement | More |
| T1418IGBCL | t(14;18)(IGH/BCL2) rearrangement | More |
| HEXASEQ | Tay-Sachs disease (sequence analysis of HEXA gene) | More |
| WNT3SEQ | Tetra-amelia AR (sequence analysis of WNT3 gene) | More |
| THPOSQT1 | Thrombocythemia 1 (sequence analysis of THPO gene) | More |
| TARDELGEN | Thrombocytopenia-absent radius syndrome (TAR, deletion/du... | More |
| F7GENETHR | Thrombophilia FVII (p.R353Q polimorphism on F7 gene) | More |
| THROMIIIMC | Thrombophilia markers (factor II and factor V Leiden) IMC | More |
| TMSERP | Thrombophilia Markers (SERPINE1/PAI1, alleles -675 4G/5G ... | More |
| THRBSEQTHR | Thyroid hormone resistance (sequence analysis of THRB gene) | More |
| KCNJ18SEQ | Thyrotoxic periodic paralysis type 2 (sequence analysis o... | More |
| TTNMEX6 | Tibial muscular dystrophy (sequence analysis of exon 363 ... | More |
| TOR1AGEN | Torsion Dystonia (DYT1, GAG Deletion on TOR1A Gene) | More |
| TOR1ASQTD | Torsion dystonia (DYT1, sequence analysis of TOR1A gene) | More |
| HPCASQDYT2 | Torsion dystonia 2 (DYT2, sequence analysis of HPCA gene) | More |
| GNALSEQDYT | Torsion dystonia 25 (DYT25, sequence analysis of GNAL gene) | More |
| SALL1SEQ | Townes-Brocks syndrome (sequence analysis of SALL1 gene) | More |
| TALDO1SEQ | Transaldolase defeciency (sequence analysis of TALDO1 gene) | More |
| GDF1SEQL3 | Transposition of great arteries, dextro-looped 3 | Ivemar... | More |
| POLR1CSEQ | Treacher-Collins syndrome 3 (sequence analysis of POLR1C ... | More |
| POLR1DSEQ | Treacher-Collins syndrome type 2 (sequence analysis of PO... | More |
| FUSSEQT4 | Tremor essential type 4 (sequence analysis of FUS gene) | More |
| GTF2H5SEQ | Trichothiodystrophy, complementation group A (sequence an... | More |
| MPLKIPGEN | Trichothiodystrophy, nonphotosensitive 1 (sequence analys... | More |
| HADHBSEQ | Trifunctional protein deficiency (sequence analysis of HA... | More |
| FMO3SEQT | Trimethylaminuria (sequence analysis of FMO3 gene) | More |
| TSC1DEL | Tuberous sclerosis 1 (deletion/duplication analysis on TS... | More |
| TSC1GSO | Tuberous Sclerosis 1 (sequencing and CNV analyses of TSC1 g) | More |
| TSC2DEL | Tuberous sclerosis 2 (deletion/duplication analysis on TS... | More |
| TSC12DEL | Tuberous sclerosis type 1 and 2(deletion/duplication anal... | More |
| GALNT3SQTC | Tumoral calcinosis, hyperphosphatemic (sequence analysis ... | More |
| COL6A1SEQ | Ullrich congenital muscular dystrophy (sequence analysis ... | More |
| WNT7ASEQ | Ulna and fibula, absence of, with severe limb deficiency ... | More |
| TBX3SEQ | Ulnar-mammary syndrome (sequence analysis of TBX3 gene) | More |
| CSTBGEN | Unverricht-Lundborg disease (detection of expansion on CS... | More |
| MYO7ADEL | Usher syndrome type 1B (deletion/duplication analysis on ... | More |
| USH2ADEL | Usher syndrome type 2A (deletion/duplication analysis on ... | More |
| USH2ASEQ | Usher syndrome type 2A (sequence analysis of USH2A gene) | More |
| UMBNFSM | Uveal melanoma and blue nevi (frequent somatic mutations ... | More |
| CYP27B1SEQ | Vitamin D-dependent rickets type I (sequence analysis of ... | More |
| VDRGENE | Vitamin D-resistant rickets (sequence analysis of VDR gene) | More |
| VHLDEL | Von Hippel-Lindau syndrome (deletion/duplication analysis... | More |
| VWFDGENE | Von Willebrand Disease (Sequence Analysis of VWF Gene) | More |
| WSNGS | Waardenburg Syndrome (NGS Panel Of 7 Genes) | More |
| MITFSEQ | Waardenburg syndrome type 2 (sequence analysis of MITF gene) | More |
| SOX10SEQ | Waardenburg syndrome type 4 (sequence analysis of SOX10 g... | More |
| EDNRBSEQ | Waardenburg syndrome type 4A (sequence analysis of EDNRB ... | More |
| EDN3SEQ | Waardenburg syndrome type 4B (sequence analysis of EDN3 g... | More |
| PAX3SEQ | Waardenburg syndrome types 1 and 3 (sequence analysis of ... | More |
| SNAI2SEQ | Waardenburg syndrome, type 2D (sequence analysis of SNAI2... | More |
| POMT1SEQ | Walker-Warburg syndrome (sequence analysis of POMT1 gene) | More |
| POMT2SEQ | Walker-Warburg syndrome (sequence analysis of POMT2 gene) | More |
| RAB3GAP1SE | Warburg micro syndrome type 1 (sequence analysis of RAB3G... | More |
| EZH2SEQ | Weaver syndrome (sequence analysis of EZH2 gene) | More |
| WESTRIOGEN | WES-Trio By CGC Genetics (whole exome sequencing) | More |
| KMT2ASEQ | Wiedemann-Steiner syndrome (sequence analysis of KMT2A gene) | More |
| WT1DEL | Wilms tumor (deletion/duplication analysis on WT1 gene) | More |
| WFS1SEQ | Wolfram syndrome (sequence analysis of WFS1 gene) | More |
| CISD2SEQ | Wolfram syndrome type 2 (sequence analysis of CISD2 gene) | More |
| WDLIPADEL | Wolman disease (deletion/duplication analysis of LIPA gene) | More |
| LIPASEQWD | Wolman disease (sequence analysis of LIPA gene) | More |
| XDHSEQ | Xanthinuria type I (sequence analysis of XDH gene) | More |
| TT1TM1GEN | Xenobiotics metabolism (GSTT1 and GSTM1 genes) | More |
| NGS8XPD | Xeroderma pigmentosum disease (NGS panel for 8 genes) | More |
| XPASEQXP | Xeroderma pigmentosum disease (sequence analysis of XPA g... | More |
| POLHSEQVT | Xeroderma pigmentosum variant type (sequence analysis of ... | More |
| XLMRMULGEN | X-linked mental retardation (deletion/duplication analysi... | More |
| PHF8DEL | X-linked mental retardation, Siderius type (deletion/dupl... | More |
| FRMPD4DEL | X-linked non-specific intellectual disability (deletion/d... | More |
| PEX1DEL | Zellweger syndrome (deletion/duplication analysis of PEX1... | More |
| ZELLW12NGS | Zellweger syndrome (NGS panel of 12 genes) | More |
| PEX1SEQ | Zellweger syndrome (sequence analysis of PEX1 gene) | More |
| PEX10SEQ | Zellweger syndrome (sequence analysis of PEX10 gene) | More |
| PEX12SEQ | Zellweger syndrome (sequence analysis of PEX12 gene) | More |
| PEX13SEQ | Zellweger syndrome (sequence analysis of PEX13 gene) | More |
| PEX14SEQ | Zellweger syndrome (sequence analysis of PEX14 gene) | More |
| PEX19SEQ | Zellweger syndrome (sequence analysis of PEX19 gene) | More |
| PEX2SEQ | Zellweger syndrome (sequence analysis of PEX2 gene) | More |
| PEX26SEQ | Zellweger syndrome (sequence analysis of PEX26 gene) | More |
| PEX3SEQ | Zellweger syndrome (sequence analysis of PEX3 gene) | More |
| PEX5SEQ | Zellweger syndrome (sequence analysis of PEX5 gene) | More |
| PEX6SEQ | Zellweger syndrome (sequence analysis of PEX6 gene) | More |
| PEX16SEQ | Zellweger syndrome (sequence analysis of PEX16 gene) | More |
| VWF28GEN | Von Willebrand disease, Normandie type (sequence analysis... | More |
| ACVRL1SEQ | Rendu-Osler-Weber disease (sequence analysis of ACVRL1 gene) | More |
| AMLEX12GEN | Acute myeloid leukemia (detection of somatic mutations of... | More |
| ATP7ASEQ | Menkes disease (sequence analysis of ATP7A gene) | More |
| CDKL5SEQ | Rett syndrome, atypical (sequence analysis of CDKL5 gene) | More |
| ACADSDEL | Short-Chain acyl-CoA dehydrogenase deficiency (deletion/d... | More |
| AP3B1GENE | Hermansky-Pudlak Syndrome 2 (sequence Analysis Of AP3B1 G... | More |
| ATN1GENE | Dentatorubral-pallidoluysian atrophy (DRPLA, CAG repeat e... | More |
| ATXN10G | Spinocerebellar ataxia 10 (SCA10, ATTCT expansion on ATXN... | More |
| ATXN1SA1 | Spinocerebellar ataxia 1 (SCA1, CAG expansion on ATXN1 gene) | More |
| C1QTNF5GEN | Retinal degeneration late-onset, AD (sequence analysis of... | More |
| C9ORF72 | Frontotemporal dementia | Amyotrophic lateral sclerosi (d... | More |
| CAPN32ASEQ | Limb-girdle muscular dystrophy type 2A (LGMD2A, sequence ... | More |
| CEP29NPHSQ | Joubert syndrome type 5 (sequence analysis of CEP290/NPHP... | More |
| CLDN14GENE | Deafness, autosomal recessive 29 (sequence analysis of CL... | More |
| CRANANDEL | Craniofacial anomalies (deletion/duplication analysis on ... | More |
| CYP7B1SQ5A | Spastic paraplegia type 5A (SPG5A, sequence analysis of C... | More |
| DELGEN21OH | Adrenal Congenital Hyperplasia Due To 21-hydroxylase defi... | More |
| ELANEGEN | Cyclic Neutropenia (sequence Analysis Of ELANE Gene) | More |
| ETHE1GENE | Ethylmalonic Encephalopathy (sequence Analysis Of ETHE1 G... | More |
| F7GENE | Factor VII Deficiency (sequence Analysis Of F7 Gene) | More |
| FDCDEL | Familial Dilated Cardiomyopathy (deletion/duplication ana... | More |
| FLT4SEQEX | Milroy disease (sequence analysis of exons 17-26 of FLT4 ... | More |
| PSEUDOMETD | Pseudohypoparathyroidism 1A,1B,1C (met & del/dupl GNAS gene) | More |
| HNF1SQM5 | MODY 5 (sequence analysis of HNF1B gene) | More |
| HPRT1SEQLN | Lesch-Nyhan syndrome (sequence analysis of HPRT1 gene) | More |
| HYPET1 | Hyperoxaluria Type 1 (frequent Mutation On AGXT Gene) | More |
| HYPET3 | Hyperoxaluria, Primary Type III (sequence analysis of HOG... | More |
| KSYN | Kartagener Syndrome (sequence Analysis Of DNAH5 Gene) | More |
| LMNAT1BSEQ | Limb-girdle muscular dystrophy type 1B (LGMD1B, sequence ... | More |
| LPSD | Lymphoproliferative Syndrome And Differential Diagnosis (... | More |
| MALFCORT | Malformations of cortical development (NGS for 64 genes) | More |
| MEN1MENT1 | Multiple endocrine neoplasia type 1 (deletion/duplication... | More |
| MODYDEL4 | MODY (deletion/duplication analysis on GCK, HNF1A, HNF1B ... | More |
| MTATP6GEN | Neuropathy, Ataxia, & Retinitis Pigmentosa (NARP, sequenc... | More |
| MTHFRSQ | Sequence Analysis of MTHFR gene | More |
| MTND4L | Leber optic atrophy (sequence analysis of MTND4L gene) | More |
| MTND6LOA | Leber optic atrophy (sequence analysis of MTND6 gene) | More |
| MUCOB1GENE | Mucopolysaccharidosis IVB (sequence Analysis Of GLB1 Gene) | More |
| MYBPC31MM | Familial Dilated Cardiomyopathy Type 1MM (del/dup MYBPC3) | More |
| MYH71S | Familial dilated cardiomyopathy type 1S (del/dup MYH7) | More |
| NGS10RICK | Rickets (NGS panel for 10 genes) | More |
| NGS11NDM | Non-dystrophic myotonias (NGS panel for 11 genes) | More |
| NGS12HSPB | Hereditary spastic paraplegia, AD (NGS panel for 12 genes) | More |
| NGS19NEPH | Nephronophthisis (NGS panel for 19 genes) | More |
| NGS265MIC | Microphthalmia (NGS panel for 26 genes) | More |
| CACNA1FSEQ | Aland Island Eye Disease (Sequence analysis of CACNA1F gene) | More |
| KCNJ2SEQ | Andersen-Tawil syndrome (sequence analysis of KCNJ2 gene) | More |
| TNNT3SEQ | Arthrogryposis, distal type 2B (sequence analysis of TNNT... | More |
| VPS33BSEQ | Arthrogryposis, renal dysfunction and cholestasis 1 (sequ... | More |
| IFT80SEQ | Asphyxiating thoracic dystrophy 2 (sequence analysis of I... | More |
| MRE11ASEQ | Ataxia telangiectasia like disorder (sequence analysis of... | More |
| WES156CNV | Autism (WES based NGS panel of 156 genes) | More |
| ACTG1SEQ | Baraitser-Winter syndrome (sequence analysis of ACTG1 gene) | More |
| RGS9SEQ | Bradyopsia (Sequence analysis of RGS9 gene) | More |
| MAOASEQ | Brunner syndrome (sequence analysis of MAOA gene) | More |
| BRAFSEQ | Cardiofaciocutaneous syndrome (sequence analysis of BRAF ... | More |
| SLC22A5SEQ | Primary carnitine deficiency (sequence analysis of SLC22A... | More |
| AKT1SEQ | Cowden Syndrome 6 (Sequence analysis of AKT1 gene) | More |
| OTOFSEQ | Deafness (sequence analysis of OTOF gene) | More |
| KCNQ4SEQ | Deafness, autosomal dominant 2A (sequence analysis of KCN... | More |
| AVPR2SEQ | Diabetes insipidus, nephrogenic X-linked (sequence analys... | More |
| SALL4SQ | Duane retraction syndrome (sequence analysis of SALL4 gene) | More |
| SPRSEQ | Dystonia, DOPA-responsive, AR (sequence analysis of SPR g... | More |
| STXBP1SEQ | Early infantile epileptic encephalopathy 4 (sequence anal... | More |
| B3GALT6SEQ | Ehlers-Danlos syndrome, progeroid type (sequence analysis... | More |
| SCARB2SEQ | Epilepsy, progressive myoclonic 4, with or without renal ... | More |
| FMUG | Afibrinogenemia, congenital | Dysfibrinogenemia, congenit... | More |
| RAD51CSEQ | Fanconi anemia, complementation group O (sequence analysi... | More |
| GLI3SEQ | Greig syndrome | Pallister-Hall syndrome | Polydactyly, p... | More |
| VKORC1SEQ | Hereditary combined deficiency of vitamin K-dependent clo... | More |
| SLCO1B1SEQ | Hyperbilirubinemia, Rotor type (sequence analysis of SLCO... | More |
| PROK2SEQ | Hypogonadotropic hypogonadism 4 with or without anosmia (... | More |
| PDHXSEQ | Lacticacidemia due to PDX1 deficiency (sequence analysis ... | More |
| TRIM32SEQ | Limb-girdle muscular dystrophy type 2H (LGMD2H, sequence ... | More |
| ARXSEQ | Lissencephaly 2, X-linked (sequence analysis of ARX gene) | More |
| MTTFSEQ | MELAS syndrome (sequence analysis of MTTF gene) | More |
| NAGLUSEQ | Mucopolysaccharidosis type 3B | Charcot-Marie-Tooth disea... | More |
| LPIN1SEQ | Myoglobinuria acute recurrent AR (sequence analysis of LP... | More |
| CLN3SEQ | Neuronal ceroid lipofuscinosis 3 (sequence analysis of CL... | More |
| CLN6SEQ | Neuronal ceroid lipofuscinosis 6 (sequence analysis of CL... | More |
| CLCN7SEQ | Osteopetrosis, autosomal recessive 4 (sequence analysis o... | More |
| PAX2SEQ | Papillorenal syndrome (sequence analysis of PAX2 gene) | More |
| SDHCSEQ | Paragangliomas 3 (sequence analysis of SDHC gene) | More |
| SNCASEQ4 | Parkinson disease 1/4 (PARK1/4, sequence analysis of SNCA... | More |
| PKHD1SEQ | Polycystic kidney disease 4 (sequence analysis of PKHD1 g... | More |
| PIWESNGS | Primary Immunodeficiency (WES Based NGS Panel For 331 genes) | More |
| ROBO3SEQ | Progressive external ophthalmoplegia - scoliosis (sequenc... | More |
| PSTPIP1SEQ | Pyogenic sterile arthritis, pyoderma gangrenosum, and acn... | More |
| KCNV2SEQ | Retinal cone dystrophy type 3B (sequence analysis of KCNV... | More |
| TTC8SEQ | Retinitis pigmentosa 51 (sequence analysis of TTC8 gene) | More |
| THSEQ | Segawa syndrome (sequence analysis of TH gene) | More |
| JAK3SEQ | Severe combined immunodeficiency, T-/B+ by JAK3 deficienc... | More |
| IFT140SEQ | Short-rib thoracic dysplasia 9 with or without polydactyl... | More |
| NR5A1SEQ | Spermatogenic failure 8 (SPGF8, sequence analysis of NR5A... | More |
| SYNE1SEQ | Spinocerebellar ataxia, autosomal recessive 8 (SCA8, sequ... | More |
| ABCA4DEL | Stargardt Disease 1 / Retinitis Pigmentosa 19 / Cone-Rod ... | More |
| TARSAGEN | Thrombocytopenia-absent radius syndrome (TAR, sequence an... | More |
| TSC12SEQ | Tuberous sclerosis 1 and 2 (sequencing and CNV analyses o... | More |
| TSC2SEQ | Tuberous sclerosis 2 (sequencing and CNV analyses of TSC2... | More |
| MYO7ASEQ | Usher syndrome type 1B | Non-syndromic sensorineural deaf... | More |
| ADAT3GENS | Mental retardation, autosomal recessive 36 (sequence anal... | More |
| CDKN2BGENE | Kidney cancer susceptibility | Multiple endocrine neoplas... | More |
| ABCB1SEQ | Drug resistance (sequence analysis of ABCB1 gene) | More |
| CD2APSEQ | Familial idiopathic steroid-resistant nephrotic syndrome ... | More |
| FANCONC | Fanconi Anemia type C (sequence analysis of FANCC gene) | More |
| FSG32GENE | Focal Segmental Glomerulosclerosis (WES based NGS panel f... | More |
| GLDCSEQAG | Glycine encephalopathy (sequence analysis of GLDC gene) | More |
| GM2ASEQ | Gangliosidosis (sequence analysis of GM2A gene) | More |
| NGS13DN | Diabetes mellitus permanent neonatal (NGS panel of 13 genes) | More |
| NGS13NBCS | Congenital stationary night blindness (NGS panel of 13 ge... | More |
| CIB2SEQ | Usher syndrome type IJ (sequence analysis of CIB2 gene) | More |
| MCD66GENE | Malformations of cortical development (lissencephaly, per... | More |
| HNNGS | Hereditary neutropenia (WES based NGS panel of 35 genes, ... | More |
| MYO182WES | Myopathies, including congenital myopathies (WES based NG... | More |
| LAMB2SEQ | Pierson syndrome (sequence analysis of LAMB2 gene) | More |
| KCNJ11SEQ | Permanent neonatal diabetes mellitus (sequence analysis o... | More |
| FLUOROTOX | 5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on ... | More |
| PTPN3GENE | Cholangiocarcinoma (sequence analysis of PTPN3 gene) | More |
| FISHEGFR | Detection By FISH Of EGFR | More |
| DEL1P19Q | Detection by FISH of del1p/del19q | More |
| MUTYHFREQ | Y179C and G396D frequent mutations on MUTYH gene | More |
| APCDEL | Familial adenomatous polyposis (deletion/duplication anal... | More |
| FAPSCNVA | Familial adenomatous polyposis (sequencing and CNV analys... | More |
| GASTRICNGS | Gastric cancer (NGS panel of 6 genes, including CNV analy... | More |
| COLONNGS | Hereditary colon cancer (NGS panel for 21 genes, including C | More |
| NGS48ONCO | OncoRisk (NGS panel for 48 genes) | More |
| NGS1VARSAN | Family variant study / fragment (one variant / fragment, ... | More |
| PARCG | Chromosomal microarray analysis (aCGH, Cytoscan HD) | More |
| INVMCC | Investigation of Maternal Cell Contamination | More |
| SPCPPTB | Somatic Pan-Cancer Plus Panel_ Tumor biopsy | More |
| SPCPPSTB | Somatic Pan-Cancer Plus Panel _Sections from tumor biopsy | More |
| SPCPTB | Somatic Pan-Cancer Panel_ Tumor biopsy | More |
| SPCPSTB | Somatic Pan-Cancer Panel_ Sections from tumor biopsy | More |
| LBPCPCGC | Liquid Biopsy Pan-Cancer Panel | More |
| MGACGC | Medical Genetics appointment | More |
| AASSTFVA | AASS Gene (Targeted Familial Variant Analysis) | More |
| ABCB4TFVA | ABCB4 Gene (Targeted Familial Variant Analysis) | More |
| ABCC2GTFVA | ABCC2 Gene (Targeted Familial Variant Analysis) | More |
| ABCC8TFVA | ABCC8 gene (Targeted Familial Variant Analysis) | More |
| ABCD1TFVA | ABCD1 Gene (Targeted Familial Variant Analysis) | More |
| ACTG1TFVA | ACTG1 Gene (Targeted Familial Variant Analysis) | More |
| ACY1TFVA | ACY1 Gene (Targeted Familial Variant Analysis) | More |
| ADA2GENTFA | ADA2 Gene (Targeted Familial Variant Analysis) | More |
| ADNPTFVA | ADNP Gene (Targeted Familial Variant Analysis) | More |
| AFF3TFVA | AFF3 Gene (Targeted Familial Variant Analysis) | More |
| AHI1TFVA | AHI1 Gene (Targeted Familial Variant Analysis) | More |
| ALDOBTFVA | ALDOB Gene (Targeted Familial Variant Analysis) | More |
| ALG3TFVA | ALG3 Gene (Targeted Familial Variant Analysis) | More |
| ALPLTFVA | ALPL gene (Targeted Familial Variant Analysis) | More |
| AMTTFVA | AMT Gene (Targeted Familial Variant Analysis) | More |
| ANK2TFVA | ANK2 Gene (Targeted Familial Variant Analysis) | More |
| ANO5TFVA | ANO5 Gene (Targeted Familial Variant Analysis) | More |
| ANTXR2TFVA | ANTXR2 Gene (Targeted Familial Variant Analysis) | More |
| AP4E1GTFVA | AP4E1 Gene (Targeted Familial Variant Analysis) | More |
| ARSAFVSO | ARSA Gene (Targeted Familial Variant Analysis) | More |
| ARSBTFVA | ARSB Gene (Targeted Familial Variant Analysis) | More |
| ATF6TFVA | ATF6 Gene (Targeted Familial Variant Analysis) | More |
| ATMTFVAGEN | ATM Gene (Targeted Familial Variant Analysis) | More |
| ATP5A1TFVA | ATP5A1 Gene (Targeted Familial Variant Analysis) | More |
| ATP6VTFVA | ATP6V0A4 Gene (Targeted Familial Variant Analysis) | More |
| ATP7BTFVA | ATP7B Gene (Targeted Familial Variant Analysis) | More |
| ATRXTFVA | ATRX Gene (Targeted Familial Variant Analysis) | More |
| BBS10TFVA | BBS10 Gene (Targeted Familial Variant Analysis) | More |
| BBS12TFVA | BBS12 Gene (Targeted Familial Variant Analysis) | More |
| BBS2TFVA | BBS2 Gene (Targeted Familial Variant Analysis) | More |
| BRIP1TFVA | BRIP1 Gene (Targeted Familial Variant Analysis) | More |
| BTDTFVA | BTD Gene (Targeted Familial Variant Analysis) | More |
| C12ORF57TF | C12orf57 Gene (Targeted Familial Variant Analysis) | More |
| C19ORF12TF | C19ORF12 Gene (Targeted Familial Variant Analysis) | More |
| C1QATFVA | C1QA Gene (Targeted Familial Variant Analysis) | More |
| CACNA1ETFV | CACNA1E Gene (Targeted Familial Variant Analysis) | More |
| CACNA1HTFV | CACNA1H Gene (Targeted Familial Variant Analysis) | More |
| CACNA2D4TF | CACNA2D4 Gene (Targeted Familial Variant Analysis) | More |
| CCDC174TFV | CCDC174 Gene (Targeted Familial Variant Analysis) | More |
| CCDC40TF | CCDC40 Gene (Targeted Familial Variant Analysis) | More |
| CFAP410TFV | CFAP410 gene (Targeted Familial Variant Analysis) | More |
| CFTRTFVA | CFTR Gene (Targeted Familial Variant Analysis) | More |
| CHRNB1TFVA | CHRNB1 Gene (Targeted Familial Variant Analysis) | More |
| CLCN1TFVA | CLCN1 gene (Targeted Familial Variant Analysis) | More |
| CLCNKBTFVA | CLCNKB Gene (Targeted Familial Variant Analysis) | More |
| CLN5TFVA | CLN5 Gene (Targeted Familial Variant Analysis) | More |
| CNGA3TFVA | CNGA3 Gene (Targeted Familial Variant Analysis) | More |
| CNTNAP1TFV | CNTNAP1 Gene (Targeted Familial Variant Analysis) | More |
| COL11A2TFV | COL11A2 Gene (Targeted Familial Variant Analysis) | More |
| COL3A1TFVA | COL3A1 Gene (Targeted Familial Variant Analysis) | More |
| COL4A1TFVA | COL4A1 Gene (Targeted Familial Variant Analysis) | More |
| COL4A3TFVA | COL4A3 Gene (Targeted Familial Variant Analysis) | More |
| COL4A4TFVA | COL4A4 gene (Targeted Familial Variant Analysis) | More |
| COL5A2TFVA | COL5A2 Gene (Targeted Familial Variant Analysis) | More |
| COL6A1TFVA | COL6A1 Gene (Targeted Familial Variant Analysis) | More |
| COQ8BTFVA | COQ8B Gene (Targeted Familial Variant Analysis) | More |
| CPLANE1TFV | CPLANE1 Gene (Targeted Familial Variant Analysis) | More |
| CSF2RATFVA | CSF2RA gene (Targeted Familial Variant Analysis) | More |
| CUL3RFVA | CUL3 Gene (Targeted Familial Variant Analysis) | More |
| CYP1B1TFVA | CYP1B1 Gene (Targeted Familial Variant Analysis) | More |
| CYP21A2TFV | CYP21A2 Gene (Targeted Familial Variant Analysis) | More |
| CYP2R1TFVA | CYP2R1 Gene (Targeted Familial Variant Analysis) | More |
| CYP2UITFVA | CYP2UI Gene (Targeted Familial Variant Analysis) | More |
| DBTTFVA | DBT Gene (Targeted Familial Variant Analysis) | More |
| DHCR7TFVA | DHCR7 Gene (Targeted Familial Variant Analysis) | More |
| DIP2BTFVA | DIP2B Gene (Targeted Familial Variant Analysis) | More |
| DMDTFVA | DMD Gene (Targeted Familial Variant Analysis) | More |
| DMPKTFVA | DMPK Gene (Targeted Familial Variant Analysis) | More |
| DNAH5GEN | DNAH5 Gene (Targeted Familial Variant Analysis) | More |
| DNAJC19TFV | DNAJC19 Gene (Targeted Familial Variant Analysis) | More |
| DPYDTFVA | DPYD Gene (Targeted Familial Variant Analysis) | More |
| DSG2TFVA | DSG2 Gene (Targeted Familial Variant Analysis) | More |
| DSPTFVA | DSP Gene (Targeted Familial Variant Analysis) | More |
| DSTTFVA | DST Gene (Targeted Familial Variant Analysis) | More |
| DSTYKTFVA | DSTYK Gene (Targeted Familial Variant Analysis) | More |
| DYNC1H1TFV | DYNC1H1 Gene (Targeted Familial Variant Analysis) | More |
| DYNC2H1TFV | DYNC2H1 Gene (Targeted Familial Variant Analysis) | More |
| ECHS1GEN | ECHS1 Gene (Targeted Familial Variant Analysis) | More |
| EEF1A2TFVA | EEF1A2 Gene (Targeted Familial Variant Analysis) | More |
| ERCC5TFVA | ERCC5 Gene (Targeted Familial Variant Analysis) | More |
| ERCC6TFVA | ERCC6 Gene (Targeted Familial Variant Analysis) | More |
| ERCC8TFVA | ERCC8 Gene (Targeted Familial Variant Analysis) | More |
| F9TFVA | F9 Gene (Targeted Familial Variant Analysis) | More |
| FANCITFVA | FANCI Gene (Targeted Familial Variant Analysis) | More |
| FARS2TFVA | FARS2 Gene (Targeted Familial Variant Analysis) | More |
| FBP1TFVA | FBP1 Gene (Targeted Familial Variant Analysis) | More |
| FGFR3TFVA | FGFR3 Gene (Targeted Familial Variant Analysis) | More |
| FHL1TFVA | FHL1 Gene (Targeted Familial Variant Analysis) | More |
| FKBP10TFVA | FKBP10 Gene (Targeted Familial Variant Analysis) | More |
| FLNATFVA | FLNA gene (Targeted Familial Variant Analysis) | More |
| FOXG1TFVA | FOXG1 gene (Targeted Familial Variant Analysis) | More |
| FSCN2GEN | FSCN2 Gene (Targeted Familial Variant Analysis) | More |
| GAATFVA | GAA Gene (Targeted Familial Variant Analysis) | More |
| GALNSTFVA | GALNS Gene (Targeted Familial Variant Analysis) | More |
| GALTTFVA | GALT Gene (Targeted Familial Variant Analysis) | More |
| GCDHTFVA | GCDH Gene (Targeted Familial Variant Analysis) | More |
| GJA1TFVA | GJA1 Gene (Targeted Familial Variant Analysis) | More |
| GLATFVA | GLA Gene (Targeted Familial Variant Analysis) | More |
| GLIS3GEN | GLIS3 Gene (Targeted Familial Variant Analysis) | More |
| GORABTFVA | GORAB Gene (Targeted Familial Variant Analysis) | More |
| GPIHBP1TFV | GPIHBP1 Gene (Targeted Familial Variant Analysis) | More |
| GPR143TFVA | GPR143 Gene (Targeted Familial Variant Analysis) | More |
| GRIN2CTFVA | GRIN2C gene (Targeted Familial Variant Analysis) | More |
| GTPBP3TFVA | GTPBP3 Gene (Targeted Familial Variant Analysis) | More |
| HADHATFVA | HADHA Gene (Targeted Familial Variant Analysis) | More |
| HBA2TFVA | HBA2 Gene (Targeted Familial Variant Analysis) | More |
| HEXBTFVA | HEXB Gene (Targeted Familial Variant Analysis) | More |
| HFETFVA | HFE Gene (Targeted Familial Variant Analysis) | More |
| HMGCS2TFVA | HMGCS2 Gene (Targeted Familial Variant Analysis) | More |
| HTTTFVA | HTT Gene (Targeted Familial Variant Analysis) | More |
| HYDINTTFVA | HYDIN Gene (Targeted Familial Variant Analysis) | More |
| IDSTFVA | IDS Gene (Targeted Familial Variant Analysis) | More |
| IFIH1TFVA | IFIH1 Gene (Targeted Familial Variant Analysis) | More |
| IFT140TFVA | IFT140 Gene (Targeted Familial Variant Analysis) | More |
| IFT80TF | IFT80 Gene (Targeted Familial Variant Analysis) | More |
| IMPDH1TFVA | IMPDH1 Gene (Targeted Familial Variant Analysis) | More |
| ISCA2TFVA | ISCA2 Gene (Targeted Familial Variant Analysis) | More |
| ITGA2BTFVA | ITGA2B Gene (Targeted Familial Variant Analysis) | More |
| ITKTFVA | ITK gene (Targeted Familial Variant Analysis) | More |
| KCNJ2TFVA | KCNJ2 gene (Targeted Familial Variant Analysis) | More |
| KCNQ1TFVA | KCNQ1 Gene (Targeted Familial Variant Analysis) | More |
| KCNQ2TFVA | KCNQ2 Gene (Targeted Familial Variant Analysis) | More |
| KIAA0556TF | KIAA0556 Gene (Targeted Familial Variant Analysis) | More |
| KRT5TFVA | KRT5 Gene (Targeted Familial Variant Analysis) | More |
| LBRTFVA | LBR Gene (Targeted Familial Variant Analysis) | More |
| LPLTFVA | LPL Gene (Targeted Familial Variant Analysis) | More |
| LRP5TFVA | LRP5 Gene (Targeted Familial Variant Analysis) | More |
| LRPPRCTFVA | LRPPRC gene (Targeted Familial Variant Analysis) | More |
| LSSTFVAGEN | LSS Gene (Targeted Familial Variant Analysis) | More |
| MAP3K7GEN | MAP3K7 Gene (Targeted Familial Variant Analysis) | More |
| MCC2TFVA | MCC2 Gene (Targeted Familial Variant Analysis) | More |
| MCCC1TFVA | MCCC1 Gene (Targeted Familial Variant Analysis) | More |
| MCCC2TFVA | MCCC2 Gene (Targeted Familial Variant Analysis) | More |
| MECRTFVA | MECR Gene (Targeted Familial Variant Analysis) | More |
| MED13LTFVA | MED13L Gene (Targeted Familial Variant Analysis) | More |
| MLPHTFVA | MLPH Gene (Targeted Familial Variant Analysis) | More |
| MLYCDTFVA | MLYCD Gene (Targeted Familial Variant Analysis) | More |
| MMABGTFVA | MMAB Gene (Targeted Familial Variant Analysis) | More |
| MMP13TFVA | MMP13 Gene (Targeted Familial Variant Analysis) | More |
| MMTTL1TFVA | MMT-TL1 gene (Targeted Familial Variant Analysis) | More |
| MMUTTFVA | MMUT gene (Targeted Familial Variant Analysis) | More |
| MOCS2TFVA | MOCS2 gene (Targeted Familial Variant Analysis) | More |
| MPC1TFVA | MPC1 Gene (Targeted Familial Variant Analysis) | More |
| MPLTFVA | MPL Gene (Targeted Familial Variant Analysis) | More |
| MTFMTTFVA | MTFMT Gene (Targeted Familial Variant Analysis) | More |
| MTMTFVA | MTM Gene (Targeted Familial Variant Analysis) | More |
| MTND4TFVA | MTND4 Gene (Targeted Familial Variant Analysis) | More |
| MTND6TFVA | MT-ND6 Gene (Targeted Familial Variant Analysis) | More |
| MTORTFVA | MTOR Gene (Targeted Familial Variant Analysis) | More |
| MYH7TFVA | MYH7 Gene (Targeted Familial Variant Analysis) | More |
| MYO18BTFVA | MYO18B Gene (Targeted Familial Variant Analysis) | More |
| MYO6TFVA | MYO6 Gene (Targeted Familial Variant Analysis) | More |
| MYO7ATFVA | MYO7A Gene (Targeted Familial Variant Analysis) | More |
| NCF1TFVA | NCF1 Gene (Targeted Familial Variant Analysis) | More |
| NDUFA11TFV | NDUFA11 Gene (Targeted Familial Variant Analysis) | More |
| NDUFAF5TFV | NDUFAF5 Gene (Targeted Familial Variant Analysis) | More |
| NDUFV2TFVA | NDUFV2 Gene (Targeted Familial Variant Analysis) | More |
| NEBGTFVA | NEB Gene (Targeted Familial Variant Analysis) | More |
| NF1TFVGENE | NF1 Gene (Targeted Familial Variant Analysis) | More |
| NIPBLTFVA | NIPBL Gene (Targeted Familial Variant Analysis) | More |
| NLGN1TFVA | NLGN1 Gene (Targeted Familial Variant Analysis) | More |
| NPC2TFVA | NPC2 Gene (Targeted Familial Variant Analysis) | More |
| NPHS2TFVA | NPHS2 gene (Targeted Familial Variant Analysis) | More |
| NR2E3TFVA | NR2E3 Gene (Targeted Familial Variant Analysis) | More |
| NTRK2TFVA | NTRK2 Gene (Targeted Familial Variant Analysis | More |
| OFD1TFVA | OFD1 Gene (Targeted Familial Variant Analysis) | More |
| OTCTFVA | OTC Gene (Targeted Familial Variant Analysis) | More |
| OTOGLTFVA | OTOGL gene (Targeted Familial Variant Analysis) | More |
| OTULINTFVA | OTULIN Gene (Targeted Familial Variant Analysis) | More |
| PAHTFVAGEN | PAH Gene (Targeted Familial Variant Analysis) | More |
| PARS2TFVA | PARS2 Gene (Targeted Familial Variant Analysis) | More |
| PCCATFVA | PCCA Gene (Targeted Familial Variant Analysis) | More |
| PDLMIM7TFV | PDLIM7 Gene (Targeted Familial Variant Analysis) | More |
| PDSS2TFVA | PDSS2 Gene (Targeted Familial Variant Analysis) | More |
| PEX5TFVA | PEX5 Gene (Targeted Familial Variant Analysis) | More |
| PHF8TFVA | PHF8 Gene (Targeted Familial Variant Analysis) | More |
| PIEZO2TFVA | PIEZO2 Gene (Targeted Familial Variant Analysis) | More |
| PKHD1TFVA | PKHD1 gene (Targeted Familial Variant Analysis) | More |
| PNPT1TFVA | PNPT1 Gene (Targeted Familial Variant Analysis) | More |
| POMGNT1TFV | POMGNT1 Gene (Targeted Familial Variant Analysis) | More |
| POMT1TFVA | POMT1 Gene (Targeted Familial Variant Analysis) | More |
| PRF1TFVA | PRF1 Gene (Targeted Familial Variant Analysis) | More |
| PRODHTFVA | PRODH Gene (Targeted Familial Variant Analysis) | More |
| PSAPTFVA | PSAP Gene (Targeted Familial Variant Analysis) | More |
| PUF60TFVA | PUF60 Gene (Targeted Familial Variant Analysis) | More |
| RAD50TFVA | RAD50 Gene (Targeted Familial Variant Analysis) | More |
| RAG1TFVA | RAG1 Gene (Targeted Familial Variant Analysis) | More |
| RBBP8TFVA | RBBP8 Gene (Targeted Familial Variant Analysis) | More |
| RBM8ATFVA | RBM8A Gene (Targeted Familial Variant Analysis) | More |
| RERETFVA | RERE gene (Targeted Familial Variant Analysis) | More |
| RETTFVA | RET Gene (Targeted Familial Variant Analysis) | More |
| RHOBTB2TFV | RHOBTB2 gene (Targeted Familial Variant Analysis) | More |
| RNF213TFVA | RNF213 Gene (Targeted Familial Variant Analysis) | More |
| RPGRIP1TFV | RPGRIP1 Gene (Targeted Familial Variant Analysis) | More |
| RSPH9TFVA | RSPH9 Gene (Targeted Familial Variant Analysis) | More |
| SCL26A3TFV | SCL26A3 Gene (Targeted Familial Variant Analysis) | More |
| SCN5ATFVA | SCN5A gene (Targeted Familial Variant Analysis) | More |
| SCN9ATFVA | SCN9A Gene (Targeted Familial Variant Analysis) | More |
| SDK2TFVA | SDK2 Gene (Targeted Familial Variant Analysis) | More |
| SERAC1TFVA | SERAC1 Gene (Targeted Familial Variant Analysis) | More |
| SGCATFVA | SGCA Gene (Targeted Familial Variant Analysis) | More |
| SGSHTFVA | SGSH Gene (Targeted Familial Variant Analysis) | More |
| SKITFVA | SKI Gene (Targeted Familial Variant Analysis) | More |
| SLC13A5TFV | SLC13A5 Gene (Targeted Familial Variant Analysis) | More |
| SLC16A1TFV | SLC16A1 Gene (Targeted Familial Variant Analysis) | More |
| SLC19A3TFV | SLC19A3 Gene (Targeted Familial Variant Analysis) | More |
| SLC1A3TFVA | SLC1A3 Gene (Targeted Familial Variant Analysis) | More |
| SLC22A5TFV | SLC22A5 Gene (Targeted Familial Variant Analysis) | More |
| SLC25A24TF | SLC25A24 Gene (Targeted Familial Variant Analysis) | More |
| SLC25A42TF | SLC25A42 Gene (Targeted Familial Variant Analysis) | More |
| SLC2A1TFVA | SLC2A1 gene (Targeted Familial Variant Analysis) | More |
| SLC34A3TFV | SLC34A3 Gene (Targeted Familial Variant Analysis) | More |
| SLC38A3TFV | SLC38A3 Gene (Targeted Familial Variant Analysis) | More |
| SLC3A1GEN | SLC3A1 (Targeted Familial Variant Analysis) | More |
| SLC6A1TFVA | SLC6A1 Gene (Targeted Familial Variant Analysis) | More |
| SMN1TFVA | SMN1 Gene (Targeted Familial Variant Analysis) | More |
| SPEGTFVA | SPEG Gene (Targeted Familial Variant Analysis) | More |
| SPG7TFVA | SPG7 Gene (Targeted Familial Variant Analysis) | More |
| SUCLA2GTFV | SUCLA2 Gene (Targeted Familial Variant Analysis) | More |
| SUOXTFVA | SUOX gene (Targeted Familial Variant Analysis) | More |
| TAB2TFVA | TAB2 Gene (Targeted Familial Variant Analysis) | More |
| TBCETFVA | TBCE Gene (Targeted Familial Variant Analysis) | More |
| TCF4TFVA | TCF4 gene (Targeted Familial Variant Analysis) | More |
| TECR2TFVA | TECR2 gene (Targeted Familial Variant Analysis) | More |
| TGM5TFVA | TGM5 Gene (Targeted Familial Variant Analysis) | More |
| TIMM50TFVA | TIMM50 gene (Targeted Familial Variant Analysis) | More |
| TMEM231TFV | TMEM231 gene (Targeted Familial Variant Analysis) | More |
| TOP3BTFVA | TOP3B Gene (Targeted Familial Variant Analysis) | More |
| TRAPPC11TF | TRAPPC11 Gene (Targeted Familial Variant Analysis) | More |
| TRMT5TFVA | TRMT5 Gene (Targeted Familial Variant Analysis) | More |
| TRRAPTFVA | TRRAP gene (Targeted Familial Variant Analysis) | More |
| TSC2TVFA | TSC2 Gene (Targeted Familial Variant Analysis) | More |
| TSPEARTFVA | TSPEAR Gene (Targeted Familial Variant Analysis) | More |
| TTC21BTFVA | TTC21B Gene (Targeted Familial Variant Analysis) | More |
| TTC7ATFVA | TTC7A Gene (Targeted Familial Variant Analysis) | More |
| TTNTFVA | TTN gene (Targeted Familial Variant Analysis) | More |
| TUBB2ATFVA | TUBB2A Gene (Targeted Familial Variant Analysis) | More |
| UNC13DTFVA | UNC13D gene (Targeted Familial Variant Analysis) | More |
| UPB1TFVA | UPB1 gene (Targeted Familial Variant Analysis) | More |
| USH2ATFVA | USH2A Gene (Targeted Familial Variant Analysis) | More |
| USHA2ATF | USHA2A Gene (Targeted Familial Variant Analysis) | More |
| USP18TFVA | USP18 gene (Targeted Familial Variant Analysis) | More |
| USP7TFVA | USP7 Gene (Targeted Familial Variant Analysis) | More |
| WACTFVA | WAC gene (Targeted Familial Variant Analysis) | More |
| XPCTFVA | XPC Gene (Targeted Familial Variant Analysis) | More |
| ZC3H14TFVA | ZC3H14 Gene (Targeted Familial Variant Analysis) | More |
| ZNHIT3TFVA | ZNHIT3 Gene (Targeted Familial Variant Analysis) | More |
| GDWESGENE | Genetic deafness (WES based NGS panel of 228 genes, inclu... | More |
| BCRABL1 | BCR/ABL1, Mutation Screen, Sanger Sequencing | More |
| PAIGEN | PAI-1 (4G/5G) Gene Polymorphism | More |
| CONGADREN6 | Cogenital adrenal hyperplasia (NGS panel of 6 genes) | More |
| SCASQHBB | Sickle Cell Anemia (sequence Analysis Of HBB Gene) | More |
| ATPCR | Alpha Thalassemia PCR | More |
| AML12NPM1 | Acute myeloid leukemia (detection of somatics mutations o... | More |
| IDH1GENEEX | Acute myeloid leukemia | Glioma | Ollier disease (detecti... | More |
| ATP7BWILSO | Wilson disease (sequence analysis of ATP7B gene) | More |
| HYPOTHY | Family hypoparathyroidism (WES based NGS panel of 15 gene... | More |
| HYPERTHY | Hyperparathyroidism (NGS panel of 6 genes) | More |
| VWFDELDUP | Von Willebrand Disease (Deletion/Duplication Analysis on ... | More |
| CYTOP450 | Cytochrome P450 (7 alleles of CYP2D6, CYP2C9, CYP2C19, CY... | More |
| ISCHRFISH | Detection by FISH of isochromosome 12p | More |
| SHOXFISH | FISH analysis of SHOX gene | More |
| XSRYFISH | Detection by FISH of sexual chromosomes (X/SRY) | More |
| MLPADETDEL | Williams-Beuren syndrome (detection of 7q11.23 region del... | More |
| MLPACENT | All centromere panel by MLPA | More |
| SHANK3DLDP | Phelan-McDermid syndrome (deletion/duplication analysis o... | More |
| RB1DELDUP | Retinoblastoma (deletion/duplication analysis on RB1 gene) | More |
| MLPADELDUP | Subtelomeric deletion/duplication by MLPA | More |
| HYPOGONWES | Hypogonadotropic hypogonadism (WES based NGS panel of 40 ... | More |
| KARYOBM | Karyotype Bone Marrow | More |
| MLNMWSCNV8 | Melanoma (WES based NGS panel of 8 genes, including analy... | More |
| AHCYSEQ | Hypermethioninemia due to S-adenosylhomocysteine hydrolas... | More |
| NGS5LEG12 | Neurofibromatosis types 1 and 2, Legius syndrome and schw... | More |
| STK11DELDU | Peutz-Jeghers syndrome (deletion/duplication analysis on ... | More |
| WESSOLOPRE | WES - solo, prenatal (whole exome sequencing, including C... | More |
| CARRSOLO | Carrier Screening WES - solo | More |
| CARRCOUPL | Carrier Screening WES - couple | More |
| CARRPLUS | Carrier Screen Plus – female (WES) + FMR1 (msTP-PCR) + SM... | More |
| FMR1METH | Fragile X syndrome (FMR1 gene repeat and methylation anal... | More |
| FVS5 | Family variant / fragment study (up to 5 variants, by NGS) | More |