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Gene/Test Disorder OMIM No. Panel
AARS CMT type 2N 613287 CMT Charcot-Marie-Tooth
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency 201450 single
AGA Aspartylglucosaminuria 205400 LSD Lysosomal Storage Disorder
AIFM1 (VARIANT1) Cowchock Syndrome (CMTX4) 310490 CMT Charcot-Marie-Tooth
ALAS2 Anemia, sideroblastic, 1 300731,
300732
HFE Hyperferritinemia Panel
ALDH7A1 Epilepsy, pyridoxine-dependent 107323 EPI Epilepsy Panel
AMT Glycine encephalopathy 238310 EPI Epilepsy Panel
APC(incl. 5’UTR) Adenomatous polyposis coli, Gastric cancer, somatic 175100, 613659 HCPHereditary Cancer Panels
APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 606350 MITO Mitochondrial Genome sequence panel
ARG1 Arginase deficiency 207800 UCD Urea Cycle Disorders
ARSA Metachromatic leukodystrophy 250100 LSD Lysosomal Storage Disorder
ARSB Mucopolysaccharidosis VI 253200 LSD Lysosomal Storage Disorder
ARX Epileptic encephalopathy, early infantile, 1 300382 EPI Epilepsy Panel
ASAH1 Farber lipogranulomatosis 225000 LSD Lysosomal Storage Disorder
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy 613468 EPI Epilepsy Panel
ASL Argininosuccinic aciduria 207900 UCD Urea Cycle Disorders
ASS1 Classic citrullinemia 215700 UCD Urea Cycle Disorders
ATM Ataxia-telangiectasia, Breast cancer, susceptibility to 208900, 114480 HCPHereditary Cancer Panels
ATP1A2 Migraine, familial hemiplegic, 2 182340 EPI Epilepsy Panel
ATP1A3 Alternating hemiplegia of childhood 2 182350 EPI Epilepsy Panel
B/T Cell Lymphoma Lymphoma, non-Hodgkin, somatic, lymphoproliferative disorders 605027 PCR Polymerase Chain Reaction
B2M Amyloidosis, familial visceral 105200 HFE Hyperferritinemia Panel
BARD1 Breast cancer, susceptibility 114480 HCPHereditary Cancer Panels
BCR-ABL Leukemia, chronic myeloid, somatic 608232 Q-PCR Polymerase Chain Reaction - quantitative
BMPR1A Juvenile polyposis syndrome, infantile form, Polyposis syndrome, hereditary mixed, 174900, 610069 HCPHereditary Cancer Panels
BRAF(FFPE) Adenocarcinoma of lung, somatic, Melanoma, malignant, somatic 211980 Cancer HSIon AmpliSeq Cancer Hotspot Panel V2
BRCA1 Breast-ovarian cancer, familial, Pancreatic cancer, susceptibility to, 604370, 614320 HCPHereditary Cancer Panels
BRCA2 Breast-ovarian cancer, familial, Breast cancer, male, Pancreatic cancer, Prostate cancer 612555, 114480, 613347, 176807 HCPHereditary Cancer Panels
BRIP1 Breast cancer, early-onset, Fanconi anemia, complementation group J 114480, 609054 HCPHereditary Cancer Panels
CA5A Hyperammonemia due to carbonic anhydrase VA deficiency 114761 UCDUrea Cycle Disorders
Cancer Hotspot(FFPE) Tumour profiling using 2800 COSMIC variants Cancer HS Ion AmpliSeq Cancer Hotspot Panel V2
CDAN1 Dyserythropoietic anemia, congenital, type Ia 224120 HFEHyperferritinemia Panel
CDH1 Endometrial carcinoma, somatic,Gastric cancer, familial diffuse, Ovarian carcinoma, somatic, Breast cancer, lobular Prostate cancer, susceptibility to 608089, 137215, 167000, 114480, 176807 HCPHereditary Cancer Panels
CDK4 Melanoma, cutaneous malignant 609048 HCPHereditary Cancer Panels
CDKL5 Epileptic encephalopathy, early infantile, 2 300203 EPI Epilepsy Panel
CDKN2A Melanoma and neural system tumor syndrome, Pancreatic cancer/melanoma syndrome 155755, 606719 HCPHereditary Cancer Panels
CERS1 Epilepsy, progressive myoclonic, 8 606919 EPI Epilepsy Panel
CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens 219700,
277180
targeted
CHD2 Epileptic encephalopathy, childhood-onset 602119 EPI Epilepsy Panel
CHEK2 Li-Fraumeni syndrome, Breast cancer, Prostate cancer, familial, 609265, 114480, 176807 HCPHereditary Cancer Panels
CHRNA7 Schizophrenia, neurophysiologic defect in 118511 EPI Epilepsy Panel
CLN3 Ceroid lipofuscinosis, neuronal, 3 204200 LSD Lysosomal Storage Disorder
CLN5 Ceroid lipofuscinosis, neuronal, 5 256731 LSD Lysosomal Storage Disorder
CLN6 Ceroid lipofuscinosis, neuronal, 6 601780 LSD Lysosomal Storage Disorder
CLN8 Ceroid lipofuscinosis, neuronal, 8 600143 LSD Lysosomal Storage Disorder
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome 604569 EPI Epilepsy Panel
CP Carbamoyl phosphate synthetase I deficiency 237300 HFE Hyperferritinemia Panel
CPS1 Carbamoyl phosphate synthetase I deficiency 237300 UCD Urea Cycle Disorders
CSTB Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 601145 EPI Epilepsy Panel
CTNN1 Hereditary diffuse gastric cancer 116805 HCPHereditary Cancer Panels
CTNS Cystinosis 219800,
219900
LSD Lysosomal Storage Disorder
CTSA Galactosialidosis 256540 LSD Lysosomal Storage Disorder
CTSD Ceroid lipofuscinosis, neuronal, 10 610127 LSD Lysosomal Storage Disorder
CTSK Pycnodysostosis 265800 LSD Lysosomal Storage Disorder
DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 601465 MITO Mitochondrial Genome sequence panel
DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 601810 MITO Mitochondrial Genome sequence panel
DNAJB2(VARIANT1) CMT2T 617017 CMT Charcot-Marie-Tooth
DNAJC5 Ceroid lipofuscinosis, neurona 162350 LSD Lysosomal Storage Disorder
DNM1 Epileptic encephalopathy, early infantile, 31 602377 EPI Epilepsy Panel
DOCK7 Epileptic encephalopathy, early infantile, 23 615730 EPI Epilepsy Panel
DYNC1H1 CMT2O 614228 CMT Charcot-Marie-Tooth
EGFR(FFPE) Adenocarcinoma of lung, response to tyrosine kinase inhibitor in 211980 Cancer HSIon AmpliSeq Cancer Hotspot Panel V2
EGR2 Charcot-Marie-Tooth disease, type 1D, Dejerine-Sottas disease, Neuropathy, congenital hypomyelinating 607678, 145900, 605253 CMT Charcot-Marie-Tooth
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8 613244 HCPHereditary Cancer Panels
EPM2A Epilepsy, progressive myoclonic 2A (Lafora) 607566 EPI Epilepsy Panel
FGD4 CMT4H 609311 CMT Charcot-Marie-Tooth
FBXL4 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 605654 MITO Mitochondrial Genome sequence panel
FIG4 Charcot-Marie-Tooth disease, type 4J 611228 CMT Charcot-Marie-Tooth
FOLR1 Neurodegeneration due to cerebral folate transport deficiency 136430 EPI Epilepsy Panel
FOXG1 Rett syndrome, congenital variant 164874 EPI Epilepsy Panel
FTH1 Hemochromatosis, type 5 615517 HFE Hyperferritinemia Panel
FTL Hyperferritinemia-cataract syndrome 600886 HFE Hyperferritinemia Panel
FUCA1 Fucosidosis 230000 LSD Lysosomal Storage Disorder
GAA Glycogen storage disease II 232300 LSD Lysosomal Storage Disorder
GALC Krabbe disease 245200 LSD Lysosomal Storage Disorder
GALNS Mucopolysaccharidosis IVA 253000 LSD Lysosomal Storage Disorder
GAMT Cerebral creatine deficiency syndrome 2 601240 EPI Epilepsy Panel
GARS Charcot-Marie-Tooth disease, type 2D 601472 CMT Charcot-Marie-Tooth
GATM Cerebral creatine deficiency syndrome 3 602360 EPI Epilepsy Panel
GBA Gaucher disease, 608013 LSD Lysosomal Storage Disorder
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K, 4A 607831, 214400 CMT Charcot-Marie-Tooth
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 600924 MITO Mitochondrial Genome sequence panel
GJB1 Charcot-Marie-Tooth neuropathy, X-linked dominant 302800 CMT Charcot-Marie-Tooth
GJB2 Deafness, autosomal dominant 3A, Deafness, autosomal recessive 1A 601544, 220290 SingleSingle
GJB6 Deafness, autosomal dominant 3B, Deafness, autosomal recessive 1B,Deafness, digenic GJB2/GJB6 612643, 612645, 220290 SingleSingle
GLA Fabry disease 301500 LSD Lysosomal Storage Disorder
GLB1 Mucopolysaccharidosis IVB 253010 LSD Lysosomal Storage Disorder
GLDC Glycine encephalopathy 238300 EPI Epilepsy Panel
GLB1 GM1-gangliosidosis, type I 230500 LSD Lysosomal Storage Disorder
GLUD1 Hyperinsulinism - hyperammonemia syndrome 606762 UCD Urea Cycle Disorders
GLUL Glutamine deficiency, congenital 610015 UCD Urea Cycle Disorders
GM2A GM2-gangliosidosis, 272750 LSD Lysosomal Storage Disorder
GNPTAB Mucolipidosis II/I-Cell Disease 252500 LSD Lysosomal Storage Disorder
GNPTG Mucolipidosis III 252605 LSD Lysosomal Storage Disorder
GNS Mucopolysaccharidosis IIID 252940 LSD Lysosomal Storage Disorder
GOSR2 Epilepsy, progressive myoclonic 6 604027 EPI Epilepsy Panel
GREM1 Polyposis syndrome, mixed hereditary 1 (HMPS1) 603054 HCPHereditary Cancer Panels
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation 138253 EPI Epilepsy Panel
GRIN2B Epileptic encephalopathy, early infantile, 27 138252 EPI Epilepsy Panel
GRN Ceroid lipofuscinosis, neuronal, 11 614706 LSD Lysosomal Storage Disorder
GUSB Mucopolysaccharidosis VII 253220 LSD Lysosomal Storage Disorder
HAMP Hemochromatosis, type 2B 613313 HFE Hyperferritinemia Panel
HCN1 Epileptic encephalopathy, early infantile, 24 602780 EPI Epilepsy Panel
HEXA GM2-gangliosidosis, 272800 LSD Lysosomal Storage Disorder
HEXB Sandhoff disease, 268800 LSD Lysosomal Storage Disorder
HFE Hemochromatosis 235200 HFE Hyperferritinemia Panel
HFE2 Hemochromatosis, type 2A 602390 HFE Hyperferritinemia Panel
HGSNAT Mucopolysaccharidosis IIIC 252930 LSD Lysosomal Storage Disorder
HSPB1 Charcot-Marie-Tooth disease, axonal, type 2F 606595 CMT Charcot-Marie-Tooth
HSPB8 Charcot-Marie-Tooth disease, axonal, type 2L, Neuropathy, distal hereditary motor, type IIA 608673, 158590 CMT Charcot-Marie-Tooth
HYAL1 Mucopolysaccharidosis IX 601492 LSD Lysosomal Storage Disorder
IDS Mucopolysaccharidosis II 309900 LSD Lysosomal Storage Disorder
IDUA Mucopolysaccharidosis I 607014 LSD Lysosomal Storage Disorder
IGHMBP2 CMT2S Dhmn6 616155, 604320 CMT Charcot-Marie-Tooth
JAK2 Polycythemia vera, somatic 263300 Q-PCR Polymerase Chain Reaction - quantitative
KCNC1 Epilepsy, progressive myoclonic 7 176258 EPI Epilepsy Panel
KCNJ10 SESAME syndrome 602208 EPI Epilepsy Panel
KCNJ11 Diabetes mellitus, permanent neonatal, with neurologic features 600937 EPI Epilepsy Panel
KCNQ2 Epileptic encephalopathy, early infantile, 7 602235 EPI Epilepsy Panel
KCNQ3 Seizures, benign neonatal, type 2 602232 EPI Epilepsy Panel
KCNT1 Epileptic encephalopathy, early infantile, 14 608167 EPI Epilepsy Panel
KCTD7 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611725 EPI Epilepsy Panel
KIF1B CMT2A1 118210 CMT Charcot-Marie-Tooth
KRAS/NRAS(FFPE) Lung cancer, somatic, Gastric cancer, somatic 211980, 137215 Cancer HS Ion AmpliSeq Cancer Hotspot Panel V2
LAMP2 Danon disease 300257 LSD Lysosomal Storage Disorder
LIPA Cholesteryl ester storage disease/ Wolman disease 278000 LSD Lysosomal Storage Disorder
LITAF Charcot-Marie-Tooth disease, type 1C 601098 CMT Charcot-Marie-Tooth
LMNA Charcot-Marie-Tooth disease, type 2B1 605588 CMT Charcot-Marie-Tooth
LMNB2 Epilepsy, progressive myoclonic, 9 150341 EPI Epilepsy Panel
LRSAM1 CMT2P 614436 CMT Charcot-Marie-Tooth
MAN2B1 Mannosidosis, alpha-, types I and II 248500 LSD Lysosomal Storage Disorder
MANBA Mannosidosis, beta 248510 LSD Lysosomal Storage Disorder
MARS CMT2U 616280 CMT Charcot-Marie-Tooth
MBD5 Mental retardation, autosomal dominant 1 611472 EPI Epilepsy Panel
MCOLN1 Mucolipidosis IV 252650 LSD Lysosomal Storage Disorder
MECP2 Rett syndrome, Encephalopathy, neonatal severe, Mental retardation, X-linked syndromic 312750, 300673, 300260, 300055 SingleSingle
MECP2 Rett syndrome/Encephalopathy, neonatal severe/Mental retardation, X-linked, syndromic 13/Mental retardation, X-linked syndromic, Lubs type 300005 EPI Epilepsy Panel
MED25 CMT2B2 605589 CMT Charcot-Marie-Tooth
MEF2C Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 600662 EPI Epilepsy Panel
MEN1 Multiple endocrine neoplasia 1 131100 SingleSingle
MFN2 Charcot-Marie-Tooth disease, type 2A2, Hereditary motor and sensory neuropathy VIA 609260, 601152 CMT Charcot-Marie-Tooth
MFSD8 Ceroid lipofuscinosis, neuronal, 7 610951 LSD Lysosomal Storage Disorder
MGME1 Mitochondrial DNA depletion syndrome 11 615076 MITO Mitochondrial Genome sequence panel
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2, Mismatch repair cancer syndrome, Muir-Torre syndrome 609310, 276300, 158320 HCPHereditary Cancer Panels
MOCS1 Molybdenum cofactor deficiency A 603707 EPI Epilepsy Panel
MPZ Charcot-Marie-Tooth disease, dominant intermediate D, 1B, 2I, 2J, Dejerine-Sottas disease, Neuropathy, congenital 607791, 118200, 607677, 607736, 145900, 605253 CMT Charcot-Marie-Tooth
MSH2 Colorectal cancer, hereditary nonpolyposis, type 1, Mismatch repair cancer syndrome, Muir-Torre syndrome 120435, 276300, 158320 HCPHereditary Cancer Panels
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5, Endometrial cancer, familial, Mismatch repair cancer syndrome 614350, 608089, 276300 HCPHereditary Cancer Panels
MT-ATP6 Leigh syndrome, NARP, Lactic Acidosis/ Seizures 516060 MITO Mitochondrial Genome sequence panel
MT-ATP8 Infantile hypertrophic cardiomyopathy, 516070 MITO Mitochondrial Genome sequence panel
MT-CO1 EXIT/Myoglobinuria, DEAF, Therapy-resistant Epilepsy 516030 MITO Mitochondrial Genome sequence panel
MT-CO2 Myopathy, EXIT, Sensory Neural Hearing Loss, Encephalomyopathy, Lactic Acidosis 516040 MITO Mitochondrial Genome sequence panel
MT-CO3 MELAS, Myopathy & Myoglobinuria, Leigh syndrome-like, PEM, 516050 MITO Mitochondrial Genome sequence panel
MT-CYB EXIT, MELAS, Hypertrophic Cardiomyopathy 516020 MITO Mitochondrial Genome sequence panel
MT-ND1 Alzheimer & Parkinson Disease, MELAS, LHON 516000 MITO Mitochondrial Genome sequence panel
MT-ND2 Alzheimer Disease 516001 MITO Mitochondrial Genome sequence panel
MT-ND3 Leigh syndrome / Dystonia / Stroke 516002 MITO Mitochondrial Genome sequence panel
MT-ND4 Leigh syndrome 516003 MITO Mitochondrial Genome sequence panel
MT-ND4L MT-ND4L 516004 MITO Mitochondrial Genome sequence panel
MT-ND5 MELAS, Leigh syndrome 516005 MITO Mitochondrial Genome sequence panel
MT-ND6 LHON, Leigh syndrome 516006, 535000 MITO Mitochondrial Genome sequence panel
MT-RNR1 DEAF, Deafness, Diabetes Mellitus 561000 MITO Mitochondrial Genome sequence panel
MT-RNR2 DEAF, Rett Syndrome, MELAS, Alzheimer & Parkinson Disease 561010 MITO Mitochondrial Genome sequence panel
MT-TA Myopathy, Progressive external ophthalmoplegia 590000 MITO Mitochondrial Genome sequence panel
MT-TC Progressive Dystonia, Encephalopathy, Deafness 590020 MITO Mitochondrial Genome sequence panel
MT-TD Myoclonus and Psychomotor Regression, Mitochondrial Myopathy 590015 MITO Mitochondrial Genome sequence panel
MT-TE Mitochondrial Encephalomyopathy, Mitochondrial Myopathy, PEM, Leukoencephalopathy, Retinopathy 590025 MITO Mitochondrial Genome sequence panel
MT-TF Myoglobinuria, Tubulo-interstitial nephritis, Deafness, MERF, MELAS, Mitochondrial Myopathy 590070 MITO Mitochondrial Genome sequence panel
MT-TG PEM, Gastrointestinal Reflux and Sudden Infant Death, MHCH, CIPO 590035 MITO Mitochondrial Genome sequence panel
MT-TH Deafness, MICM, MERRF-MELAS/ cerebral edema 590040 MITO Mitochondrial Genome sequence panel
MT-TI CPEO, PEM, Maternally Inherited Cardiomyopathy 590045 MITO Mitochondrial Genome sequence panel
MT-TK MERRF, Mitochondrial cytopathy, MNGIE 590060 MITO Mitochondrial Genome sequence panel
MT-TL1 MERRF/Kearns Sayre syndrome overlap, PEM 590050 MITO Mitochondrial Genome sequence panel
MT-TL2 Mitochondrial Myopathy, CPEO, Dilated Cardiomyopathy, Kearns Sayre syndrome 590055 MITO Mitochondrial Genome sequence panel
MT-TM Mitochondrial Myopathy 590065 MITO Mitochondrial Genome sequence panel
MT-TN CPEO, Myopathy, Encephalomyopathy 590010 MITO Mitochondrial Genome sequence panel
MT-TP MERRF-like disease, Ataxia+RP+deafness, Mitochondrial cytopathy 590075 MITO Mitochondrial Genome sequence panel
MT-TQ MELAS/ encephalopathy, Myopathy 590030 MITO Mitochondrial Genome sequence panel
MT-TR Mitochondrial Myopathy, Encephalomyopathy 590005 MITO Mitochondrial Genome sequence panel
MT-TS1 Deafness; Sensory Neural Hearing Loss, Mitochondrial Myopathy, Encephalomyopathy 590080 MITO Mitochondrial Genome sequence panel
MT-TS2 CIPO, Diabetes Mellitus & Deafness, Myopathy / Encephalopathy 590085 MITO Mitochondrial Genome sequence panel
MT-TT Mitochondrial Myopathy, Infantile Mitochondrial Myopathy 590090 MITO Mitochondrial Genome sequence panel
MT-TV Leigh syndrome, MELAS, Encephalomyopathy, ataxia, myoclonus, and deafness 590105 MITO Mitochondrial Genome sequence panel
MT-TW Encephalomyopathy, Mitochondrial Myopathy 590095 MITO Mitochondrial Genome sequence panel
MT-TW Leigh syndrome, Encephalomyopathy, Myopathy 590095 MITO Mitochondrial Genome sequence panel
MT-TY Mitochondrial Myopathy, Exercise Intolerance, Mitochondrial Myopathy Cytopathy 590100 MITO Mitochondrial Genome sequence panel
MTMR2 CMT4B1 601382 CMT Charcot-Marie-Tooth
MUTYH Adenomas, multiple colorectal, Gastric cancer, somatic 608456, 613659 HCPHereditary Cancer Panels
NAGA Schindler disease, 609241,
609242
LSD Lysosomal Storage Disorder
NAGLU Mucopolysaccharidosis IIIB 252920 LSD Lysosomal Storage Disorder
NBN Nijmegen breakage syndrome 251260 HCPHereditary Cancer Panels
ND1,4,6 Leber Hereditary Optic Neuropathy 535000 PCR-R Polymerase Chain Reaction - restriction
NDRG1 CMT4D 601455 CMT Charcot-Marie-Tooth
NECAP1 Epileptic encephalopathy, early infantile, 21 611623 EPI Epilepsy Panel
NEFL Charcot-Marie-Tooth disease, type 1F, 2E 607734, 607684 CMT Charcot-Marie-Tooth
NEU1 Sialidosis 256550 LSD Lysosomal Storage Disorder
NEU1 Sialidosis, type I/ type II 608272 EPI Epilepsy Panel
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora) 608072 EPI Epilepsy Panel
NOTCH3 CADASIL 125310 single single
NPC1 Niemann-Pick disease 1 257220 LSD Lysosomal Storage Disorder
NPC2 Niemann-Pick disease 2 607625 LSD Lysosomal Storage Disorder
NRXN1 Pitt-Hopkins-like syndrome 2 600565 EPI Epilepsy Panel
OPA1 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 605290 MITO Mitochondrial Genome sequence panel
OPA3 (isoformA&B) 3-methylglutaconic aciduria, type III, Optic atrophy 3 with cataract 606580 MITO Mitochondrial Genome sequence panel
OTC Ornithine transcarbamylase deficiency 311250 UCD Urea Cycle Disorders
PALB2 Breast cancer, susceptibility, Pancreatic cancer, susceptibility 114480, 613348 HCPHereditary Cancer Panels
PCDH19 Epileptic encephalopathy, early infantile, 9 300460 EPI Epilepsy Panel
PDK3 CMTX6 300905 CMT Charcot-Marie-Tooth
PHGDH Neu-Laxova syndrome 1/Phosphoglycerate dehydrogenase deficiency 606879 EPI Epilepsy Panel
PLCB1 Epileptic encephalopathy, early infantile, 12 607120 EPI Epilepsy Panel
PMP22 Charcot-Marie-Tooth disease, type 1A, 1E, Neuropathy, recurrent, with pressure palsies, Dejerine-Sottas disease 118220, 118300, 162500, 145900 CMT Charcot-Marie-Tooth
PMS2 Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome 614337, 276300 HCPHereditary Cancer Panels
PNKP Ataxia-oculomotor apraxia 4/Microcephaly, seizures, and developmental delay 605610 EPI Epilepsy Panel
PNPO Pyridoxamine 5'-phosphate oxidase deficiency 603287 EPI Epilepsy Panel
POLE Colorectal cancer 12 471762 HCPHereditary Cancer Panels
POLD1 Colorectal Cancer 174761 HCPHereditary Cancer Panels
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type)/ Mitochondrial DNA depletion syndrome 4B (MNGIE type)/ Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)/ rogressive external ophthalmoplegia, autosomal dominant 1/Progressive external ophthalmoplegia, autosomal recessive 1 174763 EPI Epilepsy Panel
POLG Mitochondrial DNA depletion syndrome 4A, 4B, Progressive external ophthalmoplegia AD 1, AR1 174763 MITO Mitochondrial Genome sequence panel
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 604983 MITO Mitochondrial Genome sequence panel
PPT1 Ceroid lipofuscinosis, neuronal, 1 256730 LSD Lysosomal Storage Disorder
PRICKLE2 myoclonic epilepsy 608501 EPI Epilepsy Panel
PRPS1 CMTX5 311070 CMT Charcot-Marie-Tooth
PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis/Episodic kinesigenic dyskinesia 1/Seizures, benign familial infantile, 2 614386 EPI Epilepsy Panel
PRX Charcot-Marie-Tooth disease, type 4F, Dejerine-Sottas disease 614895, 145900 CMT Charcot-Marie-Tooth
PSAP Metachromatic leukodystrophy due to SAP-b deficiency 249900 LSD Lysosomal Storage Disorder
PSAT1 Phosphoserine aminotransferase deficiency/Neu-Laxova syndrome 2 610936 EPI Epilepsy Panel
PSPH Phosphoserine phosphatase deficiency 172480 EPI Epilepsy Panel
PTEN(incl.5’UTR) Cowden syndrome 1, Endometrial carcinoma, somatic, Malignant melanoma, somatic, Prostate cancer, somatic 158350, 608089, 155600, 176807 HCPHereditary Cancer Panels
RAB7A Charcot-Marie-Tooth disease, type 2B 600882 CMT Charcot-Marie-Tooth
RAD51C Breast-ovarian cancer, familial, susceptibility 613399 HCPHereditary Cancer Panels
RAD51D Breast-ovarian cancer, familial, susceptibility 614291 HCPHereditary Cancer Panels
RET Medullary thyroid carcinoma, Multiple endocrine neoplasia IIA, IIB, Pheochromocytoma, Hirschsprung disease 155240, 171400, 162300, 171300, 142623 singlesingle
RRM2B Mitochondrial DNA depletion syndrome 8A, 8B, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 604712 MITO Mitochondrial Genome sequence panel
SBF2 CMT4B2 604563 CMT Charcot-Marie-Tooth
SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure 602257 EPI Epilepsy Panel
SCN1A Dravet syndrome/Epilepsy, generalized, with febrile seizures plus, type 2/Febrile seizures, familial, 3A/Migraine, familial hemiplegic, 3 182389 EPI Epilepsy Panel
SCN1B Epilepsy, generalized, with febrile seizures plus, type 1/Atrial fibrillation, familial, 13/Brugada syndrome 5 600235 EPI Epilepsy Panel
SCN2A Epileptic encephalopathy, early infantile, 11/Seizures, benign familial infantile, 3 182390 EPI Epilepsy Panel
SCN4A Hyperkalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 2 Paramyotonia congenital, Myotonia congenita, 170500, 613345, 168300, 608390 singlesingle
SCN8A Epileptic encephalopathy, early infantile, 13/Seizures, benign familial infantile, 5 600702 EPI Epilepsy Panel
SCN9A Epilepsy, generalized, with febrile seizures plus, type 7/Erythermalgia, primary/Febrile seizures, familial, 3B 603415 EPI Epilepsy Panel
SEC23B Dyserythropoietic anemia, congenital, type II 224100 HFE Hyperferritinemia Panel
SGSH Mucopolysaccharidosis IIIA 252900 LSD Lysosomal Storage Disorder
SH3TC2 Charcot-Marie-Tooth disease, type 4C 601596 CMT Charcot-Marie-Tooth
SLC17A5 Sialic acid storage disorder, Salla disease 269920,
604369
LSD Lysosomal Storage Disorder
SLC25A13 Citrullinemia type II / NCCID 605814,
603471
UCD Urea Cycle Disorders
SLC25A15 Hyperornithinemia hyperammonemia homocitrullinuria (HHH) syndrome 238970 UCD Urea Cycle Disorders
SLC25A2 Hyperornithinemia hyperammonemia homocitrullinuria (HHH) syndrome 238970 UCD Urea Cycle Disorders
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory 205950 HFE Hyperferritinemia Panel
SLC25A4 Mitochondrial DNA depletion syndrome 12A-AD, 12B-AR, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 103220 MITO Mitochondrial Genome sequence panel
SLC2A1 Dystonia 9/GLUT1 deficiency syndrome 1, infantile onset, severe/GLUT1 deficiency syndrome 2, childhood onset/Epilepsy, idiopathic generalized, susceptibility to, 12 138140 EPI Epilepsy Panel
SLC40A1 Hemochromatosis, type 4 606069 HFE Hyperferritinemia Panel
SLC6A8 Cerebral creatine deficiency syndrome 1 300036 EPI Epilepsy Panel
SLC7A7 Lysinuric protein intolerance 222700 UCD Urea Cycle Disorders
SLC9A6 Mental retardation, X-linked syndromic, Christianson type 300231 EPI Epilepsy Panel
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Pancreatic cancer, somatic 175050, 174900, 260350 HCPHereditary Cancer Panels
SMPD1 Niemann-Pick disease A/B 222700,
607616
LSD Lysosomal Storage Disorder
SPTAN1 Epileptic encephalopathy, early infantile, 5 182810 EPI Epilepsy Panel
SPTLC1 Neuropathy, hereditary sensory and autonomic, type IA 162400 single single
STEAP3 Anemia, hypochromic microcytic, with iron overload 615324 HFE Hyperferritinemia Panel
SPG7 (isoform1&2) Spastic paraplegia 7, autosomal recessive 602783 MITO Mitochondrial Genome sequence panel
STK11 Melanoma, malignant, somatic, Pancreatic cancer, Peutz-Jeghers syndrome 260350, 175200 HCPHereditary Cancer Panels
STXBP1 Epileptic encephalopathy, early infantile, 4 602926 EPI Epilepsy Panel
SUCLA1 Mitochondrial DNA depletion syndrome 9 611224 MITO Mitochondrial Genome sequence panel
SUCLA2 Mitochondrial DNA depletion syndrome 5 603921 MITO Mitochondrial Genome sequence panel
SUMF1 Multiple sulfatase deficiency 272200 LSD Lysosomal Storage Disorder
SUOX Sulfite oxidase deficiency 606887 EPI Epilepsy Panel
SYNGAP1 Mental retardation, autosomal dominant 5 603384 EPI Epilepsy Panel
TBC1D24 Epileptic encephalopathy, early infantile, 16/Myoclonic epilepsy, infantile, familial/DOOR syndrome 613577 EPI Epilepsy Panel
TCF4 Corneal dystrophy, Fuchs endothelial, 3/Pitt-Hopkins syndrome 602272 EPI Epilepsy Panel
TF Atransferrinemia 209300 HFE Hyperferritinemia Panel
TFR2 Hemochromatosis, type 3 604250 HFE Hyperferritinemia Panel
TK2 Mitochondrial DNA depletion syndrome 2 188250 MITO Mitochondrial Genome sequence panel
TP53 Breast cancer, Colorectal cancer, Li-Fraumeni syndrome, Pancreatic cancer 114480, 114500, 151623, 260350 HCPHereditary Cancer Panels
TPP1 Ceroid lipofuscinosis, neuronal, 607998 LSD Lysosomal Storage Disorder
TRPV4 Hereditary motor and sensory neuropathy, type IIc 606071 CMT Charcot-Marie-Tooth
TSC1 Lymphangioleiomyomatosis/Tuberous sclerosis-1 605284 EPI Epilepsy Panel
TSC2 Lymphangioleiomyomatosis, somatic/Tuberous sclerosis-2 191092 EPI Epilepsy Panel
TTR Amyloidosis, hereditary, transthyretin-related, Carpal tunnel syndrome, familial 105210, 115430 single single
TWNK Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 606075 MITO Mitochondrial Genome sequence panel
TYMP Mitochondrial DNA depletion syndrome 1 131222 MITO Mitochondrial Genome sequence panel
UBE3A Angelman syndrome 601623 EPI Epilepsy Panel
ZEB2 Mowat-Wilson syndrome 605802 EPI Epilepsy Panel
Schulich School of Medicine and Dentistry London Health Sciences CentreSt. Joseph's Health Care LondonWestern University