| Gene/Test | Disorder | OMIM No. | Panel |
|---|---|---|---|
| AARS | CMT type 2N | 613287 | CMT Charcot-Marie-Tooth |
| ABAT | GABA-transaminase deficiency | 613163 | EPI Epilepsy Panel |
| ABCA1 | HDL deficiency, Tangier Disease | 600046 | FH |
| ABCG5 | Sitosterolemia 2 | 605459 | FH |
| ABCG8 | Sitosterolemia 1 | 605460 | FH |
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | CMT Charcot-Marie-Tooth |
| ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency | 201450 | single |
| ACTB | Baraitser-Winter syndrome 1 | 243310 | EPI Epilepsy Panel |
| ACTG1 | Baraitser-Winter syndrome 2 | 614583 | EPI Epilepsy Panel |
| ADSL | Adenylosuccinase deficiency | 103050 | EPI Epilepsy Panel |
| AGA | Aspartylglucosaminuria | 205400 | LSD Lysosomal Storage Disorder |
| AHNAK2 | AHNAK2 associated syndrome | 608570 | CMT Charcot-Marie-Tooth |
| AIFM1 (VARIANT1) | Cowchock Syndrome (CMTX4) | 310490 | CMT Charcot-Marie-Tooth |
| AIP(incl. 5'UTR) | Pituitary adenoma 1, multiple types(CMTX4) | 102200 | HCPHereditary Cancer Panels |
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | EPI Epilepsy Panel |
| ALDH7A1 | Epilepsy, pyridoxine-dependent | 107323 | EPI Epilepsy Panel |
| ALG13 | Developmental and epileptic encephalopathy 36 | 300884 | EPI Epilepsy Panel |
| AMT | Glycine encephalopathy | 238310 | EPI Epilepsy Panel |
| ANGPTL3 | Hypobetalipoproteinemia | 604774 | FH |
| AP3B2 | Developmental and epileptic encephalopathy 48 | 617276 | EPI Epilepsy Panel |
| APC(incl. 5’UTR) | Adenomatous polyposis coli Gastric cancer, somatic | 175100 613659 | HCPHereditary Cancer Panels |
| APOA1 | Hypoalphalipoproteinemia | 107680 | FH |
| APOA5 | Hyperchylomicronemia | 606368 | FH |
| APOB | Hypobetalipoproteinemia | 107730 | FH |
| APOC2 | Hyperlipoproteinemia | 608083 | FH |
| APOC3 | Apoliprotein C-III deficiency | 107720 | FH |
| APOE | Hyperlipoproteinemia type III | 107741 | FH |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 606350 | MITO Mitochondrial Genome sequence panel |
| ARFGEF2 | Periventricular heterotopia with microcephaly | 608097 | EPI Epilepsy Panel |
| ARHGEF10 | Slowed nerve conduction velocity, AD | 608236 | CMT Charcot-Marie-Tooth |
| ARHGEF28 | ARHGEF28 associated syndrome | 612790 | CMT Charcot-Marie-Tooth |
| ARG1 | Arginase deficiency | 207800 | UCD Urea Cycle Disorders |
| ARHGEF9 | Developmental and epileptic encephalopathy 8 | 300607 | EPI Epilepsy Panel |
| ARSA | Metachromatic leukodystrophy | 250100 | LSD Lysosomal Storage Disorder |
| ARSB | Mucopolysaccharidosis VI | 253200 | LSD Lysosomal Storage Disorder |
| ARV1 | Developmental and epileptic encephalopathy 38 | 617020 | EPI Epilepsy Panel |
| 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 |
| ASNS | Asparagine synthetase deficiency | 615574 | EPI Epilepsy Panel |
| ASS1 | Classic citrullinemia | 215700 | UCD Urea Cycle Disorders |
| ATM | Ataxia-telangiectasia Breast cancer, susceptibility to | 208900 114480 | HCPHereditary Cancer Panels |
| ATP1A1 | Charcot-Marie-Tooth disease, axonal, type 2DD | 618036 | CMT Charcot-Marie-Tooth |
| ATP1A2 | Developmental and epileptic encephalopathy 98 | 619605 | EPI Epilepsy Panel |
| ATP1A3 | Alternating hemiplegia of childhood 2 | 182350 | EPI Epilepsy Panel |
| ATP6V0A2 | Cutis laxa, autosomal recessive, type IIA | 219200 | EPI Epilepsy Panel |
| ATP7A | Spinal muscular atrophy, distal, X-linked 3 | 300489 | CMT Charcot-Marie-Tooth |
| ATP7A | Menkes disease | 309400 | EPI Epilepsy Panel |
| ATRX | Alpha-thalassemia/mental retardation syndrome Mental retardation-hypotonic facies syndrome, X-linked | 301040 309580 | EPI Epilepsy Panel |
| ATRX | Oligodontia-colorectal cancer syndrome | 608615 | HCPHereditary Cancer Panels |
| B/T Cell Lymphoma | Lymphoma, non-Hodgkin, somatic, lymphoproliferative disorders | 605027 | PCR Polymerase Chain Reaction |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | 165181 | EPI Epilepsy Panel |
| B4GAT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | 615287 | EPI Epilepsy Panel |
| BAG3 | Myopathy, myofibrillar, 6 | 612954 | CMT Charcot-Marie-Tooth |
| BAP1 | Tumor predisposition syndrome | 614327 | HCPHereditary Cancer Panels |
| BARD1 | Breast cancer, susceptibility | 114480 | HCPHereditary Cancer Panels |
| BCR-ABL | Leukemia, chronic myeloid, somatic | 608232 | Q-PCR Polymerase Chain Reaction - quantitative |
| BMPR1A (incl. 5'UTR) | 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 (incl. 5'UTR) | Breast-ovarian cancer, familial Pancreatic cancer, susceptibility to, | 604370 614320 | HCPHereditary Cancer Panels |
| BRCA2 (incl. 5'UTR) | 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 |
| BSCL2 | Neuropathy, distal hereditary motor, type VC | 619112 | CMT Charcot-Marie-Tooth |
| C1orf194 | C1orf194 associated syndrome | 618682 | CMT Charcot-Marie-Tooth |
| C3 | {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, / C3 deficiency | 120700 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| C9 | C9 deficiency | 120940 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| CA5A | Hyperammonemia due to carbonic anhydrase VA deficiency | 114761 | UCDUrea Cycle Disorders |
| CACNA1A | Developemental and epileptic encephalopathy 42 | 617106 | EPI Epilepsy Panel |
| CACNA1E | Developmental and epileptic encephalopathy 69 | 618285 | EPI Epilepsy Panel |
| CAD | Developmental and epileptic encephalopathy 50 | 616457 | EPI Epilepsy Panel |
| Cancer Hotspot(FFPE) | Tumour profiling using 2800 COSMIC variants | Cancer HS Ion AmpliSeq Cancer Hotspot Panel V2 | |
| CD46 | {Hemolytic uremic syndrome, atypical, susceptibility to, 2} | 120920 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| CDC73 | Hyperparathyroidism, familial primary | 145000 | HCPHereditary Cancer Panels |
| 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 |
| CDKN1B | Multiple endocrine neoplasia, type IV | 610755 | HCPHereditary Cancer Panels |
| CDKN2A | Melanoma and neural system tumor syndrome Pancreatic cancer/melanoma syndrome | 155755 606719 | HCPHereditary Cancer Panels |
| CETP | Hyperalphalipoproteinemia | 118470 | FH |
| CFB | {Hemolytic uremic syndrome, atypical, susceptibility to, 4} | 138470 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| CFH | {Hemolytic uremic syndrome, atypical, susceptibility to, 1} | 134370 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| CFI | {Hemolytic uremic syndrome, atypical, susceptibility to, 3} | 217030 | AHUSAtypical Hemolytic Uremic Syndrome 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 |
| CHRNA2 | Epilepsy, nocturnal frontal lobe, type 4 | 610353 | EPI Epilepsy Panel |
| CHRNA4 | Epilepsy, nocturnal frontal lobe, 1 | 600513 | EPI Epilepsy Panel |
| CHRNB2 | Epilepsy, nocturnal frontal lobe, 3 | 605375 | EPI Epilepsy Panel |
| CLCN4 | Raynaud-Claes syndrome | 300114 | 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 |
| CNTNAP1 | Hypomyelinating neuropathy, congenital, 3 | 618186 | CMT Charcot-Marie-Tooth |
| CNTNAP2 | Cortical dysplasia-focal epilepsy syndrome | 604569 | EPI Epilepsy Panel |
| CPA6 | Epilepsy, familial temporal lobe, 5 | 614417 | EPI Epilepsy Panel |
| CPS1 | Carbamoyl phosphate synthetase I deficiency | 237300 | UCD Urea Cycle Disorders |
| CSTB | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | 601145 | EPI Epilepsy Panel |
| CTNNA1 | 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 | EPI Epilepsy Panel |
| CTSD | Ceroid lipofuscinosis, neuronal, 10 | 610127 | LSD Lysosomal Storage Disorder |
| CTSF | Ceroid lipofuscinosis, neuronal, 13 (Kufs type) | 615362 | EPI Epilepsy Panel |
| CTSK | Pycnodysostosis | 265800 | LSD Lysosomal Storage Disorder |
| DCTN1 | Neuronopathy, distal hereditary motor, type VIIB | 607641 | CMT Charcot-Marie-Tooth |
| DCTN2 | DCTN2 associated syndrome | 607376 | CMT Charcot-Marie-Tooth |
| DCX | Lissencephaly, X-linked | 300067 | EPI Epilepsy Panel |
| DENND5A | Developmental and epileptic encephalopathy 49 | 617281 | EPI Epilepsy Panel |
| DEPDC5 | Epilepsy, familial focal, with variable foci 1 | 604364 | EPI Epilepsy Panel |
| DGAT2 | DGAT2 associated syndrome | 606983 | CMT Charcot-Marie-Tooth |
| DGKE | {Hemolytic uremic syndrome, atypical, susceptibility to, 7} | 601440 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| DGUOK | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 601465 | MITO Mitochondrial Genome sequence panel |
| DHTKD1 | Charcot-Marie-Tooth disease, axonal, type 2Q | 615025 | CMT Charcot-Marie-Tooth |
| DICER1 | Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors Pleuropulmonary blastoma Rhabdomyosarcoma, embryonal, 2 | 138800 601200 180295 | HCPHereditary Cancer Panels |
| DNA2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 601810 | MITO Mitochondrial Genome sequence panel |
| DNAJB2 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | CMT Charcot-Marie-Tooth |
| DNAJB2(VARIANT1) | CMT2T | 604139 | CMT Charcot-Marie-Tooth |
| DNAJC5 | Ceroid lipofuscinosis, neuronal, 4, Parry type | 162350 | EPI Epilepsy Panel |
| DNAJC5 | Ceroid lipofuscinosis, neurona | 162350 | LSD Lysosomal Storage Disorder |
| DNM1 | Epileptic encephalopathy, early infantile, 31 | 602377 | EPI Epilepsy Panel |
| DNM2 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | CMT Charcot-Marie-Tooth |
| DNMT1 | Neuropathy, hereditary sensory, type IE | 614116 | CMT Charcot-Marie-Tooth |
| DOCK7 | Epileptic encephalopathy, early infantile, 23 | 615730 | EPI Epilepsy Panel |
| DPYD Genotyping | Fluoropyrimidine toxicity | 612779 | targeted targeted |
| DRP2 | DRP2 associated syndrome | 300052 | CMT Charcot-Marie-Tooth |
| DYNC1H1 | CMT2O | 614228 | CMT Charcot-Marie-Tooth |
| DYNC1H1 | Mental retardation, autosomal dominant 13 | 614563 | EPI Epilepsy Panel |
| DYRK1A | Mental retardation, autosomal dominant 7 | 614104 | EPI Epilepsy Panel |
| EEF1A2 | Developmental and epileptic encephalopathy 33 | 616409 | EPI Epilepsy Panel |
| EGFR | Nonsmall cell lung cancer, susceptibility to | 211980 | HCPHereditary Cancer Panels |
| EGFR(FFPE) | Adenocarcinoma of lung, response to tyrosine kinase inhibitor in | 211980 | Cancer HSIon AmpliSeq Cancer Hotspot Panel V2 |
| EGLN1 | Erythrocytosis, familial, 3 | 609820 | HCPHereditary Cancer Panels |
| EGR2 | Charcot-Marie-Tooth disease, type 1D Dejerine-Sottas disease Neuropathy, congenital hypomyelinating | 607678 145900 605253 | CMT Charcot-Marie-Tooth |
| EHMT1 | Kleefstra syndrome 1 | 610253 | EPI Epilepsy Panel |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8 | 613244 | HCPHereditary Cancer Panels |
| EPM2A | Epilepsy, progressive myoclonic 2A (Lafora) | 607566 | EPI Epilepsy Panel |
| EXT1 | Exostoses, multiple, type 1 | 133700 | HCPHereditary Cancer Panels |
| EXT2 | Exostoses, multiple, type 2 | 133701 | HCPHereditary Cancer Panels |
| F12 | Angioedema, hereditary, type III / Factor XII deficiency | 610619 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| FBLN5 | Neuropathy, hereditary, with or without age-related macular degeneration | 608895 | CMT Charcot-Marie-Tooth |
| FBXL4 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 605654 | MITO Mitochondrial Genome sequence panel |
| FGD4 | CMT4H | 609311 | CMT Charcot-Marie-Tooth |
| FGF12 | Developmental and epileptic encephalopathy 47 | 617166 | EPI Epilepsy Panel |
| FH | Leiomyomatosis and renal cell cancer | 150800 | HCPHereditary Cancer Panels |
| FIG4 | Charcot-Marie-Tooth disease, type 4J | 611228 | CMT Charcot-Marie-Tooth |
| FKRP | Candidate gene for atypical hemolytic uremic syndrome | 606596 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | 613153 606612 607155 | EPI Epilepsy Panel |
| FKTN | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | 253800 613152 611588 | EPI Epilepsy Panel |
| FLCN | Birt-Hogg-Dube syndrome , Colorectal cancer, somatic, Renal carcinoma, chromophobe, somatic | 607273 | HCPHereditary Cancer Panels |
| FLNA | Heterotopia, periventricular, 1 | 300049 | EPI Epilepsy Panel |
| FOLR1 | Neurodegeneration due to cerebral folate transport deficiency | 136430 | EPI Epilepsy Panel |
| FOXG1 | Rett syndrome, congenital variant | 164874 | EPI Epilepsy Panel |
| FRRS1L | Developmental and epileptic encephalopathy 37 | 616981 | EPI Epilepsy Panel |
| FUCA1 | Fucosidosis | 230000 | LSD Lysosomal Storage Disorder |
| GAA | Glycogen storage disease II | 232300 | LSD Lysosomal Storage Disorder |
| GABBR2 | Developmental and epileptic encephalopathy 59 | 617904 | EPI Epilepsy Panel |
| GABRA1 | Developmental and epileptic encephalopathy 19 | 615744 | EPI Epilepsy Panel |
| GABRB2 | Developmental and epileptic encephalopathy 92 | 617829 | EPI Epilepsy Panel |
| GABRB3 | Developmental and epileptic encephalopathy 43 | 617113 | EPI Epilepsy Panel |
| GABRG2 | Developmental and epileptic encephalopathy 74 Epilepsy, generalized, with febrile seizures plus, type 3 Febrile seizures, familial, 8 | 618396 607681 607681 | EPI Epilepsy Panel |
| GALC | Krabbe disease | 245200 | LSD Lysosomal Storage Disorder |
| GALNS | Mucopolysaccharidosis IVA | 253000 | LSD Lysosomal Storage Disorder |
| GALNT12 | Colorectal cancer, susceptibility to, 1 | 608812 | HCPHereditary Cancer Panels |
| GAMT | Cerebral creatine deficiency syndrome 2 | 601240 | EPI Epilepsy Panel |
| GARS | Charcot-Marie-Tooth disease, type 2D | 601472 | CMT Charcot-Marie-Tooth |
| 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 |
| GLB1 | GM1-gangliosidosis, type I | 230500 | LSD Lysosomal Storage Disorder |
| GLDC | Glycine encephalopathy | 238300 | EPI Epilepsy Panel |
| 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 |
| GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | 615351 615352 | EPI Epilepsy Panel |
| GNAO1 | Developmental and epileptic encephalopathy 17 | 615473 | EPI Epilepsy Panel |
| GNB4 | Charcot-Marie-Tooth disease, dominant intermediate F | 615185 | CMT Charcot-Marie-Tooth |
| 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 |
| GPD1 | Hypertriglyceridemia, transient infantile | 138420 | FH |
| GPIHBP1 | Hyperlipoproteinemia | 612757 | FH |
| GPR56 | Polymicrogyria, bilateral frontoparietal | 606854 | EPI Epilepsy Panel |
| GPSM2 | Chudley-McCullough syndrome | 604213 | EPI Epilepsy Panel |
| GREM1 (incl. 5'UTR) | Polyposis syndrome, mixed hereditary 1 (HMPS1) | 603054 | HCPHereditary Cancer Panels |
| GRIN1 | Developmental and epileptic encephalopathy 101 | 619814 | EPI Epilepsy Panel |
| 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 |
| GRIN2D | Developmental and epileptic encephalopathy 46 | 617162 | EPI Epilepsy Panel |
| GRN | Ceroid lipofuscinosis, neuronal, 11 | 614706 | EPI Epilepsy Panel |
| GUSB | Mucopolysaccharidosis VII | 253220 | LSD Lysosomal Storage Disorder |
| HARS | Charcot-Marie-Tooth disease, axonal, type 2W | 616625 | CMT Charcot-Marie-Tooth |
| 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 |
| HGSNAT | Mucopolysaccharidosis IIIC | 252930 | LSD Lysosomal Storage Disorder |
| HINT1 | Neuromyotonia and axonal neuropathy, autosomal recessive | 137200 | CMT Charcot-Marie-Tooth |
| HNRNPU | Developmental and epileptic encephalopathy 54 | 617391 | EPI Epilepsy Panel |
| HOXB13 | Prostate Cancer | 604607 | HCPHereditary Cancer Panels |
| HSPB1 | Charcot-Marie-Tooth disease, axonal, type 2F | 606595 | CMT Charcot-Marie-Tooth |
| HSPB3 | Neuronopathy, distal hereditary motor, type IIC | 613376 | 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 |
| INF2 | Glomerulosclerosis, focal segmental, 5/Charcot-Marie-Tooth disease, dominant intermediate E | 610982 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| IGHMBP2 | CMT2S Dhmn6 | 616155, 604320 | CMT Charcot-Marie-Tooth |
| INF2 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | CMT Charcot-Marie-Tooth |
| ITPA | Developmental and epileptic encephalopathy 35 | 616647 | EPI Epilepsy Panel |
| JAG1 | Alagille syndrome 1 | 118450 | CMT Charcot-Marie-Tooth |
| JAK2 | Polycythemia vera, somatic | 263300 | Q-PCR Polymerase Chain Reaction - quantitative |
| KANSL1 | Koolen-De Vries syndrome | 610443 | EPI Epilepsy Panel |
| KARS | Charcot-Marie-Tooth disease, recessive intermediate, B | 613641 | CMT Charcot-Marie-Tooth |
| KATNB1 | Lissencephaly 6, with microcephaly | 616212 | EPI Epilepsy Panel |
| KCNA1 | Episodic ataxia/myokymia syndrome | 160120 | EPI Epilepsy Panel |
| KCNA2 | Developmental and epileptic encephalopathy 32 | 616366 | EPI Epilepsy Panel |
| KCNB1 | Developmental and epileptic encephalopathy 26 | 616056 | EPI Epilepsy Panel |
| KCNC1 | Epilepsy, progressive myoclonic 7 | 176258 | EPI Epilepsy Panel |
| KCNH5 | Develpmental and epileptic encephalopathy 112 | 620537 | EPI Epilepsy Panel |
| KCNJ10 | SESAME syndrome | 602208 | EPI Epilepsy Panel |
| KCNMA1 | Cerebellar atrophy, developmental delay, and seizures Liang-Wang syndrome Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 617643 618729 609446 | 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 |
| KCTD7 | Epilepsy, progressive myoclonic 3 | 611726 | EPI Epilepsy Panel |
| KDM5C | Mental retardation, X-linked, syndromic, Claes-Jensen type | 300534 | EPI Epilepsy Panel |
| KIAA1279 | Goldberg-Shprintzen megacolon syndrome | 609460 | EPI Epilepsy Panel |
| KIAA2022 (NEXMIF) | Intellectual development disorder | 300912 | EPI Epilepsy Panel |
| KIF1B | CMT2A1 | 118210 | CMT Charcot-Marie-Tooth |
| KIF2A | Cortical dysplasia, complex, with other brain malformations 3 | 615411 | EPI Epilepsy Panel |
| KIF5A | Spastic paraplegia 10, autosomal dominant | 604187 | CMT Charcot-Marie-Tooth |
| KIT | Gastrointestinal stromal tumor, familial | 606764 | HCPHereditary Cancer Panels |
| KRAS/NRAS(FFPE) | Lung cancer, somatic Gastric cancer, somatic | 211980 137215 | Cancer HS Ion AmpliSeq Cancer Hotspot Panel V2 |
| LAMA2 | Muscular dystrophy, congenital, merosin deficient or partially deficient Muscular dystrophy, limb-girdle, autosomal recessive 23 | 607855 618138 | EPI Epilepsy Panel |
| LAMP2 | Danon disease | 300257 | LSD Lysosomal Storage Disorder |
| LARGE1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | 613154 608840 | EPI Epilepsy Panel |
| LCAT | Fish-eye disease; Norum disease | 606967 | FH |
| LDLR | Hypercholesterolemia | 606945 | FH |
| LDLRAP1 | Hypercholesterolemia | 605747 | FH |
| LGI1 | Epilepsy, familial temporal lobe, 1 | 600512 | EPI Epilepsy Panel |
| LIPA | Cholesteryl ester storage disease, Wolman disease | 613497 | LSD Lysosomal Storage Disorder/FH |
| LIPC | Hepatic lipase deficiency | 151670 | FH |
| LITAF | Charcot-Marie-Tooth disease, type 1C | 601098 | CMT Charcot-Marie-Tooth |
| LMF1 | Lipase deficiency, combined | 611761 | FH |
| LMNA | Charcot-Marie-Tooth disease, type 2B1 | 605588 | CMT Charcot-Marie-Tooth |
| LMNB2 | Epilepsy, progressive myoclonic, 9 | 150341 | EPI Epilepsy Panel |
| LPL | Lipoprotein lipase deficiency, Combined hyperlipidemia | 609708 | FH |
| LRSAM1 | CMT2P | 614436 | CMT Charcot-Marie-Tooth |
| LZTR1 | Schwannomatosis-2, susceptibility to | 615670 | HCPHereditary Cancer Panels |
| 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 |
| MAX | Pheochromocytoma, susceptibility to | 171300 | HCPHereditary Cancer Panels |
| MBD5 | Mental retardation, autosomal dominant 1 | 611472 | EPI Epilepsy Panel |
| MCM3AP | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 618124 | CMT Charcot-Marie-Tooth |
| MCOLN1 | Mucolipidosis IV | 252650 | LSD Lysosomal Storage Disorder |
| MDH2 | Developmental and epileptic encephalopathy 51 | 617339 | EPI Epilepsy Panel |
| 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 |
| MEN1 | Adrenal adenoma, somatic, Angiofibroma, somatic, Carcinoid tumor of lung, Lipoma, somatic, Multiple endocrine neoplasia 1, Parathyroid adenoma, somatic | 613733 | HCPHereditary Cancer Panels |
| MET | Renal cell carcinoma, papillary, 1, familial and somatic | 605074 | HCPHereditary Cancer Panels |
| 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 | EPI Epilepsy Panel |
| MFSD8 | Ceroid lipofuscinosis, neuronal, 7 | 610951 | LSD Lysosomal Storage Disorder |
| MGME1 | Mitochondrial DNA depletion syndrome 11 | 615076 | MITO Mitochondrial Genome sequence panel |
| MITF | Melanoma, cutaneous malignant, susceptibility to, 8 | 614456 | HCPHereditary Cancer Panels |
| MLH1 (incl. 5'UTR) | Colorectal cancer, hereditary nonpolyposis, type 2 Mismatch repair cancer syndrome Muir-Torre syndrome | 609310 276300 158320 | HCPHereditary Cancer Panels |
| MLH3 | Colorectal cancer, hereditary nonpolyposis, type 7 | 614385 | HCPHereditary Cancer Panels |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | 609831 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| MMADHC | Candidate gene for atypical hemolytic uremic syndrome | 611935 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| MME | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | CMT Charcot-Marie-Tooth |
| MOCS1 | Molybdenum cofactor deficiency A | 603707 | EPI Epilepsy Panel |
| MORC2 | Charcot-Marie-Tooth disease, axonal, type 2Z | 616688 | CMT Charcot-Marie-Tooth |
| MPV17 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 137960 | MITO Mitochondrial Genome sequence 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 (incl. 5'UTR) | Colorectal cancer, hereditary nonpolyposis, type 1 Mismatch repair cancer syndrome Muir-Torre syndrome | 120435 276300 158320 | HCPHereditary Cancer Panels |
| MSH3 | Endometrial carcinoma, somatic, Familial adenomatous polyposis 4 | 600887 | 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 |
| MTTP | Abetalipoproteinemia | 157147 | FH |
| MUTYH | Adenomas, multiple colorectal Gastric cancer, somatic | 608456 613659 | HCPHereditary Cancer Panels |
| NAGA | Schindler disease | 609241, 609242 | LSD Lysosomal Storage Disorder |
| NAGLU | Charcot-Marie-Tooth disease, axonal, type 2V | 616491 | CMT Charcot-Marie-Tooth |
| 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 |
| NDE1 | Lissencephaly 4 (with microcephaly) | 614019 | EPI Epilepsy Panel |
| NDRG1 | CMT4D | 601455 | CMT Charcot-Marie-Tooth |
| NEFH | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | CMT Charcot-Marie-Tooth |
| 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 |
| NF1 | Neurofibromatosis, type 1 | 162200 | HCPHereditary Cancer Panels |
| NF2 | Neurofibromatosis, type 2 Schwannomatosis, somatic | 101000 162091 | HCPHereditary Cancer Panels |
| NGLY1 | Congenital disorder of deglycosylation 1 | 615273 | 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 |
| NPRL2 | Epilepsy, familial focal, with variable foci 2 | 617116 | EPI Epilepsy Panel |
| NPRL3 | Epilepsy, familial focal, with variable foci 3 | 617118 | EPI Epilepsy Panel |
| NRXN1 | Pitt-Hopkins-like syndrome 2 | 600565 | EPI Epilepsy Panel |
| NTHL1 | Familial adenomatous polyposis 3 | 602656 | HCPHereditary Cancer Panels |
| OCLN | Pseudo-TORCH syndrome 1 | 251290 | 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 |
| PAFAH1B1 | Lissencephaly 1, Subcortical laminar heterotopia | 607432 | EPI Epilepsy Panel |
| PAK3 | Mental retardation, X-linked 30/47 | 300558 | EPI Epilepsy Panel |
| PALB2 | Breast cancer, susceptibility Pancreatic cancer, susceptibility | 114480 613348 | HCPHereditary Cancer Panels |
| PCDH19 | Epileptic encephalopathy, early infantile, 9 | 300460 | EPI Epilepsy Panel |
| PCSK9 | Hypercholesterolemia | 607786 | FH |
| PDGFRA | Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial | 175510 | HCPHereditary Cancer Panels |
| PDK3 | CMTX6 | 300905 | CMT Charcot-Marie-Tooth |
| PDXK | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | 618511 | CMT Charcot-Marie-Tooth |
| PHF6 | Borjeson-Forssman-Lehmann syndrome | 301900 | EPI Epilepsy Panel |
| PHGDH | Neu-Laxova syndrome 1/Phosphoglycerate dehydrogenase deficiency | 606879 | EPI Epilepsy Panel |
| PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | EPI Epilepsy Panel |
| PIGG | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | 616917 | EPI Epilepsy Panel |
| PIGN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 | EPI Epilepsy Panel |
| PIGO | Hyperphosphatasia with impaired intellectual development syndrome 2 | 614749 | EPI Epilepsy Panel |
| PIGT | Multiple congenital anomalie-hypotonia-seizures syndrome 3 | 615398 | EPI Epilepsy Panel |
| PIGV | Hyperphosphatasia with impaired intellectual development syndrome 1 | 239300 | EPI Epilepsy Panel |
| KCNC1 | Epilepsy, progressive myoclonic 7 | 176258 | EPI Epilepsy Panel |
| PLCB1 | Epileptic encephalopathy, early infantile, 12 | 607120 | EPI Epilepsy Panel |
| PLEKHG5 | Charcot-Marie-Tooth disease, recessive intermediate C | 615376 | CMT Charcot-Marie-Tooth |
| PLG | Dysplasminogenemia | 173350 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| PLPBP | Epilepsy, early-onset, vitamin B6-dependent | 617290 | EPI Epilepsy Panel |
| PMP2 | Charcot-Marie-Tooth disease, demyelinating, type 1G | 618279 | CMT Charcot-Marie-Tooth |
| 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 | Charcot-Marie-Tooth disease, type 2B2 | 605589 | CMT Charcot-Marie-Tooth |
| PNKP | Ataxia-oculomotor apraxia 4/Microcephaly, seizures, and developmental delay | 605610 | EPI Epilepsy Panel |
| PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | 603287 | EPI Epilepsy Panel |
| POLD1 | Colorectal Cancer | 174761 | HCPHereditary Cancer Panels |
| POLE | Colorectal cancer 12 | 471762 | 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 |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 | EPI Epilepsy Panel |
| POMGNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 | 614830 618135 | EPI Epilepsy Panel |
| POMK | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | 615249 | EPI Epilepsy Panel |
| POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 236670 | EPI Epilepsy Panel |
| POMT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | 613150 | EPI Epilepsy Panel |
| POT1 | Glioma susceptibility 9 Melanoma, cutaneous malignant, susceptibility to, 10 | 616568 615848 | HCPHereditary Cancer Panels |
| PPT1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 | EPI Epilepsy Panel |
| PPT1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 | LSD Lysosomal Storage Disorder |
| PRICKLE1 | Epilepsy, progressive myoclonic 1B | 612437 | EPI Epilepsy Panel |
| PRKAR1A | Carney complex, type 1 | 160980 | HCPHereditary Cancer Panels |
| 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 |
| PTCH1 | Basal cell nevus syndrome | 109400 | HCPHereditary Cancer Panels |
| PTEN (incl. 5'UTR) | Cowden syndrome 1 Endometrial carcinoma, somatic Malignant melanoma, somatic Prostate cancer, somatic | 158350 608089 155600 176807 | HCPHereditary Cancer Panels |
| PTRH2 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | 616263 | CMT Charcot-Marie-Tooth |
| PURA | Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties | 616158 | EPI Epilepsy Panel |
| RAB7A | Charcot-Marie-Tooth disease, type 2B | 600882 | CMT Charcot-Marie-Tooth |
| RAB18 | Warburg micro syndrome 3 | 614222 | EPI Epilepsy Panel |
| RAB39B | Mental retardation, X-linked 72 | 300271 | EPI Epilepsy Panel |
| RAB3GAP1 | Warburg micro syndrome 1 | 600118 | EPI Epilepsy Panel |
| RAB3GAP2 | Warburg micro syndrome 2 | 614225 | EPI Epilepsy Panel |
| RAD51C | Breast-ovarian cancer, familial, susceptibility | 613399 | HCPHereditary Cancer Panels |
| RAD51D | Breast-ovarian cancer, familial, susceptibility | 614291 | HCPHereditary Cancer Panels |
| RB1 | Retinoblastoma | 180200 | HCPHereditary Cancer Panels |
| RECQL | 600537 | HCPHereditary Cancer Panels | |
| RELN | Lissencephaly 2 (Norman-Roberts type) Epilepsy, familial temporal lobe, 7 | 257320 616436 | EPI Epilepsy Panel |
| RET | Multiple endocrine neoplasia IIA Multiple endocrine neoplasia IIB Pheochromocytoma | 171400 162300 171300 | HCPHereditary Cancer Panels |
| RET | Medullary thyroid carcinoma Multiple endocrine neoplasia IIA, IIB Pheochromocytoma Hirschsprung disease | 155240 171400, 162300 171300 142623 | singlesingle |
| RNF43 | Sessile serrated polyposis cancer syndrome | 617108 | HCPHereditary Cancer Panels |
| ROGDI | Kohlschutter-Tonz syndrome | 226750 | EPI Epilepsy Panel |
| RPS20 | 603682 | HCPHereditary Cancer Panels | |
| RRM2B | Mitochondrial DNA depletion syndrome 8A, 8B, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 604712 | MITO Mitochondrial Genome sequence panel |
| RTTN | Microcephaly, short stature, and polymicrogyria with seizures | 614833 | EPI Epilepsy Panel |
| SAR1B | Chylomicron retention disease | 607690 | FH |
| SBF1 | Charcot-Marie-Tooth disease, type 4B3 | 615284 | CMT Charcot-Marie-Tooth |
| SBF2 | CMT4B2 | 604563 | CMT Charcot-Marie-Tooth |
| SCARB1 | Candidate gene for dyslipidemia | 601040 | FH |
| 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 |
| SCN3A | Develpmental and epileptic encephalopathy 62; Epilepsy, familial focal, with variable foci 4 | 614749 617935 | 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 |
| SCO2 | Mitochondrial complex IV deficiency, nuclear type 2 | 604377 | CMT Charcot-Marie-Tooth |
| SDHA | Paragangliomas 5 | 614165 | HCPHereditary Cancer Panels |
| SDHAF2 | Paragangliomas 2 | 601650 | HCPHereditary Cancer Panels |
| SDHB | Cowden syndrome 2 , Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma , Paragangliomas 4, Pheochromocytoma | 185470 | HCPHereditary Cancer Panels |
| SDHC | Gastrointestinal stromal tumor Paraganglioma and gastric stromal sarcoma Paragangliomas 3 | 606764 606864 605373 | HCPHereditary Cancer Panels |
| SDHD | Paraganglioma and gastric stromal sarcoma Paragangliomas 1, with or without deafness Pheochromocytoma | 606864 168000 171300 | HCPHereditary Cancer Panels |
| SELRC1 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 618387 | CMT Charcot-Marie-Tooth |
| SEPT9 | Amyotrophy, hereditary neuralgic | 162100 | CMT Charcot-Marie-Tooth |
| SERPINI1 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | EPI Epilepsy Panel |
| SETX | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 606002 | CMT Charcot-Marie-Tooth |
| SGCE | Dystonia-11, myoclonic | 159900 | EPI Epilepsy Panel |
| SGPL1 | Nephrotic syndrome, type 14 | 617575 | CMT Charcot-Marie-Tooth |
| SGSH | Mucopolysaccharidosis IIIA | 252900 | LSD Lysosomal Storage Disorder |
| SH3TC2 | Charcot-Marie-Tooth disease, type 4C | 601596 | CMT Charcot-Marie-Tooth |
| SIGMAR1 | Spinal muscular atrophy, distal, autosomal recessive, 2 | 605726 | CMT Charcot-Marie-Tooth |
| 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 |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy | 218000 | CMT Charcot-Marie-Tooth |
| SLC6A1 | Myoclonic-atonic epilepsy | 616421 | EPI Epilepsy Panel |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 | 300036 | EPI Epilepsy Panel |
| SLC7A7 | Lysinuric protein intolerance | 222700 | UCD Urea Cycle Disorders |
| SLC9A3R1 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | 612287 | CMT Charcot-Marie-Tooth |
| SLC9A6 | Mental retardation, X-linked syndromic, Christianson type | 300231 | EPI Epilepsy Panel |
| SLC12A5 | Developmental and epileptic encephalopathy 34 | 616645 | EPI Epilepsy Panel |
| SLC13A5 | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta | 615905 | EPI Epilepsy Panel |
| SLC17A5 | Sialic acid storage disorder Salla disease | 269920 604369 | LSD Lysosomal Storage Disorder |
| SLC19A3 | Thiamine metabolism dysfunction syndrome 2 (biotin-or-thiamine-responsive encephalopathy type 2) | 607483 | EPI Epilepsy Panel |
| SLC25A2 | Hyperornithinemia hyperammonemia homocitrullinuria (HHH) syndrome | 238970 | UCD Urea Cycle Disorders |
| 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 |
| SLC25A12 | Developmental and epileptic encephalopathy 39 | 612949 | EPI Epilepsy Panel |
| SLC25A13 | Citrullinemia type II / NCCID | 605814, 603471 | UCD Urea Cycle Disorders |
| SLC25A15 | Hyperornithinemia hyperammonemia homocitrullinuria (HHH) syndrome | 238970 | UCD Urea Cycle Disorders |
| SLC25A22 | Developmental and epileptic encephalopathy 3 | 609304 | EPI Epilepsy Panel |
| SLC35A2 | Congenital disorder of glycosylation, type IIm | 300896 | EPI Epilepsy Panel |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Polyposis, juvenile intestinal Pancreatic cancer, somatic | 175050 174900 260350 | HCPHereditary Cancer Panels |
| SMARCA2 | Nicolaides-Baraitser syndrome | 601358 | EPI Epilepsy Panel |
| SMARCA4 | Rhabdoid tumor predisposition syndrome 2 | 613325 | HCPHereditary Cancer Panels |
| SMARCB1 | Rhabdoid tumor predisposition syndrome 1 Schwannomatosis-1, susceptibility to | 609322 162091 | HCPHereditary Cancer Panels |
| SMARCE1 | Meningioma, familial, susceptibility to | 607174 | HCPHereditary Cancer Panels |
| SMPD1 | Niemann-Pick disease A/B | 222700, 607616 | LSD Lysosomal Storage Disorder |
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | 609528 | EPI Epilepsy Panel |
| SORD | Sorbitol dehydrogenase deficiency with peripheral neuropathy | 618912 | CMT Charcot-Marie-Tooth |
| AFG2A | Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities | 616577 | EPI Epilepsy Panel |
| SPG7 (isoform1&2) | Spastic paraplegia 7, autosomal recessive | 602783 | MITO Mitochondrial Genome sequence panel |
| SPG11 | Charcot-Marie-Tooth disease, axonal, type 2X | 616668 | CMT Charcot-Marie-Tooth |
| SPTAN1 | Epileptic encephalopathy, early infantile, 5 | 182810 | EPI Epilepsy Panel |
| SPTLC1 | Neuropathy, hereditary sensory and autonomic, type IA | 162400 | single single CMT Charcot-Marie-Tooth |
| SRD5A3 | Congenital disorder of glycosylation, type Iq Kahrizi syndrome | 612379 612713 | EPI Epilepsy Panel |
| ST3GAL5 | Salt and pepper developmental regression | 609056 | EPI Epilepsy Panel |
| STAP1 | Candidate gene for dyslipidemia | 604298 | FH |
| STK11 | Melanoma, malignant, somatic, Pancreatic cancer Peutz-Jeghers syndrome | 260350 175200 | HCPHereditary Cancer Panels |
| STX1B | Generalized epilepsy with febrile seizures plus, type 9 | 616172 | EPI Epilepsy Panel |
| STXBP1 | Epileptic encephalopathy, early infantile, 4 | 602926 | EPI Epilepsy Panel |
| SUCLA2 | Mitochondrial DNA depletion syndrome 5 | 603921 | MITO Mitochondrial Genome sequence panel |
| SUCLG1 | Mitochondrial DNA depletion syndrome 9 | 611224 | MITO Mitochondrial Genome sequence panel |
| SUFU | Meningioma, familial, susceptibility to Basal cell nevus syndrome Medulloblastoma, desmoplastic | 607174 109400 155255 | HCPHereditary Cancer Panels |
| SUMF1 | Multiple sulfatase deficiency | 272200 | LSD Lysosomal Storage Disorder |
| SUOX | Sulfite oxidase deficiency | 606887 | EPI Epilepsy Panel |
| SURF1 | Charcot-Marie-Tooth disease, type 4K | 616684 | CMT Charcot-Marie-Tooth |
| SYN1 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 300491 | EPI Epilepsy Panel |
| SYNGAP1 | Mental retardation, autosomal dominant 5 | 603384 | EPI Epilepsy Panel |
| SYNJ1 | Developmental and epileptic encephalopathy 53 | 617389 | EPI Epilepsy Panel |
| SZT2 | Developmental and epileptic encephalopathy 18 | 615476 | 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 |
| TFG | Hereditary motor and sensory neuropathy, Okinawa type | 604484 | CMT Charcot-Marie-Tooth |
| THBD | {Hemolytic uremic syndrome, atypical, susceptibility to, 6} | 188040 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| TK2 | Mitochondrial DNA depletion syndrome 2 | 188250 | MITO Mitochondrial Genome sequence panel |
| TMEM127 | Pheochromocytoma, susceptibility to | 171300 | HCPHereditary Cancer Panels |
| TP53 (incl. 5'UTR) | Breast cancer Colorectal cancer Li-Fraumeni syndrome Pancreatic cancer | 114480 114500 151623 260350 | HCPHereditary Cancer Panels |
| TPP1 | Ceroid lipofuscinosis, neuronal, 2 | 204500 | EPI Epilepsy Panel |
| TPP1 | Ceroid lipofuscinosis, neuronal, | 607998 | LSD Lysosomal Storage Disorder |
| TRIM2 | Charcot-Marie-Tooth disease, type 2R | 615490 | CMT Charcot-Marie-Tooth |
| TRPM3 | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 620224 | EPI Epilepsy Panel |
| TRPV4 | Hereditary motor and sensory neuropathy, type IIc | 606071 | CMT Charcot-Marie-Tooth |
| TSC1 | Lymphangioleiomyomatosis/Tuberous sclerosis-1 | 605284 | EPI Epilepsy Panel |
| TSC1 | Tuberous sclerosis-1 | 191100 | HCPHereditary Cancer Panels |
| TSC2 | Lymphangioleiomyomatosis, somatic/Tuberous sclerosis-2 | 191092 | EPI Epilepsy Panel |
| TSC2 | Tuberous sclerosis-2 | 613254 | HCPHereditary Cancer Panels |
| TTR | Amyloidosis, hereditary, transthyretin-related Carpal tunnel syndrome, familial | 105210 115430 | single single CMT Charcot-Marie-Tooth |
| TUBA1A | Lissencephaly 3 | 611603 | EPI Epilepsy Panel |
| TUBB | Cortical dysplasia, complex, with other brain malformations 6 | 615771 | EPI Epilepsy Panel |
| TUBB2A | Cortical dysplasia, complex, with other brain malformations 5 | 615763 | EPI Epilepsy Panel |
| TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 | 610031 | EPI Epilepsy Panel |
| TUBB3 | Cortical dysplasia, complex, with other brain malformations 1 | 614039 | EPI Epilepsy Panel |
| 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 |
| UBA5 | Developmental and epileptic encephalopathy 44 | 617132 | EPI Epilepsy Panel |
| UBE3A | Angelman syndrome | 601623 | EPI Epilepsy Panel |
| VCP | Charcot-Marie-Tooth disease, type 2Y | 616687 | CMT Charcot-Marie-Tooth |
| VHL | Pheochromocytoma Renal cell carcinoma, somatic von Hippel-Lindau syndrome | 171300 144700 193300 | HCPHereditary Cancer Panels |
| VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | 224050 | EPI Epilepsy Panel |
| VRK1 | Pontocerebellar hypoplasia type 1A | 607596 | CMT Charcot-Marie-Tooth |
| VTN | Candidate gene for atypical hemolytic uremic syndrome | 193190 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| VWF | von Willebrand disease, type 1 / type 2A, 2B, 2M, 2N / type 3 | 613160 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| WARS | Neuronopathy, distal hereditary motor, type IX | 617721 | CMT Charcot-Marie-Tooth |
| WDR45 | Neurodegeneration with brain iron accumulation 5 | 300894 | EPI Epilepsy Panel |
| WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 604317 | EPI Epilepsy Panel |
| WWOX | Developmental and epileptic encephalopathy 28 | 616211 | EPI Epilepsy Panel |
| YARS | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | CMT Charcot-Marie-Tooth |
| YWHAG | Developmental and epileptic encephalopathy 56 | 617665 | EPI Epilepsy Panel |
| ZEB2 | Mowat-Wilson syndrome | 605802 | EPI Epilepsy Panel |
