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Gene/TestDisorderOMIM No.Panel
AARSCMT type 2N613287CMT Charcot-Marie-Tooth
ABATGABA-transaminase deficiency613163EPI Epilepsy Panel
ABCA1HDL deficiency, familial, 1604091FH
ABCG5Sitosterolemia 2618666FH
ABCG8Sitosterolemia 1210250FH
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674CMT Charcot-Marie-Tooth
ACADMAcyl-CoA dehydrogenase, medium chain, deficiency201450single
ACTBBaraitser-Winter syndrome 1243310EPI Epilepsy Panel
ACTG1Baraitser-Winter syndrome 2614583EPI Epilepsy Panel
ADSLAdenylosuccinase deficiency103050EPI Epilepsy Panel
AGAAspartylglucosaminuria205400LSD Lysosomal Storage Disorder
AHNAK2AHNAK2 associated syndrome608570CMT Charcot-Marie-Tooth
AIFM1 (VARIANT1)Cowchock Syndrome (CMTX4)310490CMT Charcot-Marie-Tooth
AIP(incl. 5'UTR)Pituitary adenoma 1, multiple types(CMTX4)102200HCPHereditary Cancer Panels
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937EPI Epilepsy Panel
ALAS2Anemia, sideroblastic, 1300731,
HFE Hyperferritinemia Panel
ALDH7A1Epilepsy, pyridoxine-dependent107323EPI Epilepsy Panel
ALG13Developmental and epileptic encephalopathy 36300884EPI Epilepsy Panel
AMTGlycine encephalopathy238310EPI Epilepsy Panel
ANGPTL3Hypobetalipoproteinemia, familial, 2605019FH
AP3B2Developmental and epileptic encephalopathy 48617276EPI Epilepsy Panel
APC(incl. 5’UTR)Adenomatous polyposis coli 
Gastric cancer, somatic
HCPHereditary Cancer Panels
APOA1Hypoalphalipoproteinemia, primary, 2; 
Amyloidosis, 3
APOA5Hyperchylomicronemia, late-onset144650FH
APOBHypercholesterolemia, familial, 2; Hypobetalipoproteinemia144010
APOCHyperlipoproteinemia, type Ib207750FH
APOC3Apoliprotein C-III deficiency614028FH
APOEHyperlipoproteinemia , type III; Lipoprotein glomerulopathy617347
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia606350MITO Mitochondrial Genome sequence panel
ARFGEF2Periventricular heterotopia with microcephaly608097EPI Epilepsy Panel
ARHGEF10Slowed nerve conduction velocity, AD608236CMT Charcot-Marie-Tooth
ARHGEF28ARHGEF28 associated syndrome612790CMT Charcot-Marie-Tooth
ARG1Arginase deficiency207800UCD Urea Cycle Disorders
ARHGEF9Developmental and epileptic encephalopathy 8300607EPI Epilepsy Panel
ARSAMetachromatic leukodystrophy250100LSD Lysosomal Storage Disorder
ARSBMucopolysaccharidosis VI253200LSD Lysosomal Storage Disorder
ARV1Developmental and epileptic encephalopathy 38617020EPI Epilepsy Panel
ARXEpileptic encephalopathy, early infantile, 1300382EPI Epilepsy Panel
ASAH1Farber lipogranulomatosis225000LSD Lysosomal Storage Disorder
ASAH1Spinal muscular atrophy with progressive myoclonic epilepsy613468EPI Epilepsy Panel
ASLArgininosuccinic aciduria207900UCD Urea Cycle Disorders
ASNSAsparagine synthetase deficiency615574EPI Epilepsy Panel
ASS1Classic citrullinemia215700UCD Urea Cycle Disorders
Breast cancer, susceptibility to
HCPHereditary Cancer Panels
ATP1A1Charcot-Marie-Tooth disease, axonal, type 2DD618036CMT Charcot-Marie-Tooth
ATP1A2Developmental and epileptic encephalopathy 98619605EPI Epilepsy Panel
ATP1A3Alternating hemiplegia of childhood 2182350EPI Epilepsy Panel
ATP6V0A2Cutis laxa, autosomal recessive, type IIA219200EPI Epilepsy Panel
ATP7ASpinal muscular atrophy, distal, X-linked 3300489CMT Charcot-Marie-Tooth
ATP7AMenkes disease309400EPI Epilepsy Panel
ATRXAlpha-thalassemia/mental retardation syndrome
Mental retardation-hypotonic facies syndrome, X-linked
EPI Epilepsy Panel
ATRXOligodontia-colorectal cancer syndrome608615HCPHereditary Cancer Panels
B/T Cell LymphomaLymphoma, non-Hodgkin, somatic, lymphoproliferative disorders605027PCR Polymerase Chain Reaction
B2MAmyloidosis, familial visceral105200HFE Hyperferritinemia Panel
B3GALNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11165181EPI Epilepsy Panel
B4GAT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13615287EPI Epilepsy Panel
BAG3Myopathy, myofibrillar, 6612954CMT Charcot-Marie-Tooth
BAP1Tumor predisposition syndrome614327HCPHereditary Cancer Panels
BARD1Breast cancer, susceptibility114480HCPHereditary Cancer Panels
BCR-ABLLeukemia, chronic myeloid, somatic608232Q-PCR Polymerase Chain Reaction - quantitative
BMPR1A (incl. 5'UTR)Juvenile polyposis syndrome, infantile form 
Polyposis syndrome, hereditary mixed,
HCPHereditary Cancer Panels
BRAF(FFPE)Adenocarcinoma of lung, somatic, Melanoma, malignant, somatic211980Cancer HSIon AmpliSeq Cancer Hotspot Panel V2
BRCA1 (incl. 5'UTR)Breast-ovarian cancer, familial 
Pancreatic cancer, susceptibility to,
HCPHereditary Cancer Panels
BRCA2 (incl. 5'UTR)Breast-ovarian cancer familial 
Breast cancer, male 
Pancreatic cancer 
Prostate cancer
HCPHereditary Cancer Panels
BRIP1Breast cancer, early-onset 
Fanconi anemia, complementation group J
HCPHereditary Cancer Panels
BSCL2Neuropathy, distal hereditary motor, type VC619112CMT Charcot-Marie-Tooth
C1orf194C1orf194 associated syndrome618682CMT Charcot-Marie-Tooth
C3{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, / C3 deficiency120700AHUSAtypical Hemolytic Uremic Syndrome Panel
C9C9 deficiency120940AHUSAtypical Hemolytic Uremic Syndrome Panel
CA5AHyperammonemia due to carbonic anhydrase VA deficiency114761UCDUrea Cycle Disorders
CACNA1ADevelopemental and epileptic encephalopathy 42617106EPI Epilepsy Panel
CACNA1EDevelopmental and epileptic encephalopathy 69618285EPI Epilepsy Panel
CADDevelopmental and epileptic encephalopathy 50616457EPI 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}120920AHUSAtypical Hemolytic Uremic Syndrome Panel
CDAN1Dyserythropoietic anemia, congenital, type Ia224120HFEHyperferritinemia Panel
CDC73Hyperparathyroidism, familial primary145000HCPHereditary Cancer Panels
CDH1Endometrial carcinoma, somatic 
Gastric cancer, familial diffuse 
Ovarian carcinoma, somatic 
Breast cancer, lobular 
Prostate cancer, susceptibility to
HCPHereditary Cancer Panels
CDK4Melanoma, cutaneous malignant609048HCPHereditary Cancer Panels
CDKL5Epileptic encephalopathy, early infantile, 2300203EPI Epilepsy Panel
CDKN1BMultiple endocrine neoplasia, type IV610755HCPHereditary Cancer Panels
CDKN2AMelanoma and neural system tumor syndrome 
Pancreatic cancer/melanoma syndrome
HCPHereditary Cancer Panels
CFB{Hemolytic uremic syndrome, atypical, susceptibility to, 4}138470AHUSAtypical Hemolytic Uremic Syndrome Panel
CFH{Hemolytic uremic syndrome, atypical, susceptibility to, 1}134370AHUSAtypical Hemolytic Uremic Syndrome Panel
CFHR1{Hemolytic uremic syndrome, atypical, susceptibility to}134371AHUSAtypical Hemolytic Uremic Syndrome Panel
CFHR2{Hemolytic uremic syndrome, atypical, susceptibility to} not listed600889AHUSAtypical Hemolytic Uremic Syndrome Panel
CFHR3{Hemolytic uremic syndrome, atypical, susceptibility to}605336AHUSAtypical Hemolytic Uremic Syndrome Panel
CFHR4{Hemolytic uremic syndrome, atypical, susceptibility to} not listed605337AHUSAtypical Hemolytic Uremic Syndrome Panel
CFHR5Nephropathy due to CFHR5 deficiency608593AHUSAtypical Hemolytic Uremic Syndrome Panel
CFI{Hemolytic uremic syndrome, atypical, susceptibility to, 3}217030AHUSAtypical Hemolytic Uremic Syndrome Panel
CFTRCystic fibrosis 
Congenital bilateral absence of vas deferens
CHD2Epileptic encephalopathy, childhood-onset602119EPI Epilepsy Panel
CHEK2Li-Fraumeni syndrome 
Breast cancer 
Prostate cancer, familial,
HCPHereditary Cancer Panels
CHRNA2Epilepsy, nocturnal frontal lobe, type 4610353EPI Epilepsy Panel
CHRNA4Epilepsy, nocturnal frontal lobe, 1600513EPI Epilepsy Panel
CHRNB2Epilepsy, nocturnal frontal lobe, 3605375EPI Epilepsy Panel
CLCN4Raynaud-Claes syndrome300114EPI Epilepsy Panel
CLN3Ceroid lipofuscinosis, neuronal, 3204200LSD Lysosomal Storage Disorder
CLN5Ceroid lipofuscinosis, neuronal, 5256731LSD Lysosomal Storage Disorder
CLN6Ceroid lipofuscinosis, neuronal, 6601780LSD Lysosomal Storage Disorder
CLN8Ceroid lipofuscinosis, neuronal, 8600143LSD Lysosomal Storage Disorder
CNTNAP1Hypomyelinating neuropathy, congenital, 3618186CMT Charcot-Marie-Tooth
CNTNAP2Cortical dysplasia-focal epilepsy syndrome604569EPI Epilepsy Panel
CPCarbamoyl phosphate synthetase I deficiency237300HFE Hyperferritinemia Panel
CPA6Epilepsy, familial temporal lobe, 5614417EPI Epilepsy Panel
CPS1Carbamoyl phosphate synthetase I deficiency237300UCD Urea Cycle Disorders
CSTBEpilepsy, progressive myoclonic 1A (Unverricht and Lundborg)601145EPI Epilepsy Panel
CTNNA1Hereditary diffuse gastric cancer116805HCPHereditary Cancer Panels
LSD Lysosomal Storage Disorder
CTSAGalactosialidosis256540LSD Lysosomal Storage Disorder
CTSDCeroid lipofuscinosis, neuronal, 10610127EPI Epilepsy Panel
CTSDCeroid lipofuscinosis, neuronal, 10610127LSD Lysosomal Storage Disorder
CTSFCeroid lipofuscinosis, neuronal, 13 (Kufs type)615362EPI Epilepsy Panel
CTSKPycnodysostosis265800LSD Lysosomal Storage Disorder
DCTN1Neuronopathy, distal hereditary motor, type VIIB607641CMT Charcot-Marie-Tooth
DCTN2DCTN2 associated syndrome607376CMT Charcot-Marie-Tooth
DCXLissencephaly, X-linked300067EPI Epilepsy Panel
DENND5ADevelopmental and epileptic encephalopathy 49617281EPI Epilepsy Panel
DEPDC5Epilepsy, familial focal, with variable foci 1604364EPI Epilepsy Panel
DGAT2DGAT2 associated syndrome606983CMT Charcot-Marie-Tooth
DGKE{Hemolytic uremic syndrome, atypical, susceptibility to, 7}601440AHUSAtypical Hemolytic Uremic Syndrome Panel
DGUOKMitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4601465MITO Mitochondrial Genome sequence panel
DHTKD1Charcot-Marie-Tooth disease, axonal, type 2Q615025CMT Charcot-Marie-Tooth
DICER1Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
Pleuropulmonary blastoma
Rhabdomyosarcoma, embryonal, 2
HCPHereditary Cancer Panels
DNA2Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6601810MITO Mitochondrial Genome sequence panel
DNAJB2Spinal muscular atrophy, distal, autosomal recessive, 5614881CMT Charcot-Marie-Tooth
DNAJB2(VARIANT1)CMT2T604139CMT Charcot-Marie-Tooth
DNAJC5Ceroid lipofuscinosis, neuronal, 4, Parry type162350EPI Epilepsy Panel
DNAJC5Ceroid lipofuscinosis, neurona162350LSD Lysosomal Storage Disorder
DNM1Epileptic encephalopathy, early infantile, 31602377EPI Epilepsy Panel
DNM2Charcot-Marie-Tooth disease, dominant intermediate B606482CMT Charcot-Marie-Tooth
DNMT1Neuropathy, hereditary sensory, type IE614116CMT Charcot-Marie-Tooth
DOCK7Epileptic encephalopathy, early infantile, 23615730EPI Epilepsy Panel
DPYD GenotypingFluoropyrimidine toxicity612779targeted targeted
DRP2DRP2 associated syndrome300052CMT Charcot-Marie-Tooth
DYNC1H1CMT2O614228CMT Charcot-Marie-Tooth
DYNC1H1Mental retardation, autosomal dominant 13614563EPI Epilepsy Panel
DYRK1AMental retardation, autosomal dominant 7614104EPI Epilepsy Panel
EEF1A2Developmental and epileptic encephalopathy 33616409EPI Epilepsy Panel
EGFRNonsmall cell lung cancer, susceptibility to211980HCPHereditary Cancer Panels
EGFR(FFPE)Adenocarcinoma of lung, response to tyrosine kinase inhibitor in211980Cancer HSIon AmpliSeq Cancer Hotspot Panel V2
EGLN1Erythrocytosis, familial, 3609820HCPHereditary Cancer Panels
EGR2Charcot-Marie-Tooth disease, type 1D 
Dejerine-Sottas disease 
Neuropathy, congenital hypomyelinating
CMT Charcot-Marie-Tooth
EHMT1Kleefstra syndrome 1610253EPI Epilepsy Panel
EPCAMColorectal cancer, hereditary nonpolyposis, type 8613244HCPHereditary Cancer Panels
EPM2AEpilepsy, progressive myoclonic 2A (Lafora)607566EPI Epilepsy Panel
EXT1Exostoses, multiple, type 1133700HCPHereditary Cancer Panels
EXT2Exostoses, multiple, type 2133701HCPHereditary Cancer Panels
F12Angioedema, hereditary, type III / Factor XII deficiency610619AHUSAtypical Hemolytic Uremic Syndrome Panel
FBLN5Neuropathy, hereditary, with or without age-related macular degeneration608895CMT Charcot-Marie-Tooth
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)605654MITO Mitochondrial Genome sequence panel
FGD4CMT4H609311CMT Charcot-Marie-Tooth
FGF12Developmental and epileptic encephalopathy 47617166EPI Epilepsy Panel
FHLeiomyomatosis and renal cell cancer150800HCPHereditary Cancer Panels
FIG4Charcot-Marie-Tooth disease, type 4J611228CMT Charcot-Marie-Tooth
FKRPMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 / Type B,5 / Type C,5606596AHUSAtypical Hemolytic Uremic Syndrome Panel
FKRPMuscular 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
EPI Epilepsy Panel
FKTNMuscular 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
EPI Epilepsy Panel
FLCNBirt-Hogg-Dube syndrome , Colorectal cancer, somatic, Renal carcinoma, chromophobe, somatic607273HCPHereditary Cancer Panels
FLNAHeterotopia, periventricular, 1300049EPI Epilepsy Panel
FOLR1Neurodegeneration due to cerebral folate transport deficiency136430EPI Epilepsy Panel
FOXG1Rett syndrome, congenital variant164874EPI Epilepsy Panel
FRRS1LDevelopmental and epileptic encephalopathy 37616981EPI Epilepsy Panel
FTH1Hemochromatosis, type 5615517HFE Hyperferritinemia Panel
FTLHyperferritinemia-cataract syndrome600886HFE Hyperferritinemia Panel
FUCA1Fucosidosis230000LSD Lysosomal Storage Disorder
GAAGlycogen storage disease II232300LSD Lysosomal Storage Disorder
GABBR2Developmental and epileptic encephalopathy 59617904EPI Epilepsy Panel
GABRA1Developmental and epileptic encephalopathy 19615744EPI Epilepsy Panel
GABRB2Developmental and epileptic encephalopathy 92617829EPI Epilepsy Panel
GABRB3Developmental and epileptic encephalopathy 43617113EPI Epilepsy Panel
GABRG2Developmental and epileptic encephalopathy 74
Epilepsy, generalized, with febrile seizures plus, type 3
Febrile seizures, familial, 8
EPI Epilepsy Panel
GALCKrabbe disease245200LSD Lysosomal Storage Disorder
GALNSMucopolysaccharidosis IVA253000LSD Lysosomal Storage Disorder
GALNT12Colorectal cancer, susceptibility to, 1608812HCPHereditary Cancer Panels
GAMTCerebral creatine deficiency syndrome 2601240EPI Epilepsy Panel
GARSCharcot-Marie-Tooth disease, type 2D601472CMT Charcot-Marie-Tooth
GBAGaucher disease,608013LSD Lysosomal Storage Disorder
GDAP1Charcot-Marie-Tooth disease, axonal, type 2K, 4A607831, 214400CMT Charcot-Marie-Tooth
GFERMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay600924MITO Mitochondrial Genome sequence panel
GJB1Charcot-Marie-Tooth neuropathy, X-linked dominant302800CMT Charcot-Marie-Tooth
GJB2Deafness, autosomal dominant 3A 
Deafness, autosomal recessive 1A
GJB6Deafness, autosomal dominant 3B 
Deafness, autosomal recessive 1B 
Deafness, digenic GJB2/GJB6
GLAFabry disease301500LSD Lysosomal Storage Disorder
GLB1Mucopolysaccharidosis IVB253010LSD Lysosomal Storage Disorder
GLB1GM1-gangliosidosis, type I230500LSD Lysosomal Storage Disorder
GLDCGlycine encephalopathy238300EPI Epilepsy Panel
GLUD1Hyperinsulinism - hyperammonemia syndrome606762UCD Urea Cycle Disorders
GLULGlutamine deficiency, congenital610015UCD Urea Cycle Disorders
GM2AGM2-gangliosidosis,272750LSD Lysosomal Storage Disorder
GMPPBMuscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
EPI Epilepsy Panel
GNAO1Developmental and epileptic encephalopathy 17615473EPI Epilepsy Panel
GNB4Charcot-Marie-Tooth disease, dominant intermediate F615185CMT Charcot-Marie-Tooth
GNPTABMucolipidosis II/I-Cell Disease252500LSD Lysosomal Storage Disorder
GNPTGMucolipidosis III252605LSD Lysosomal Storage Disorder
GNSMucopolysaccharidosis IIID252940LSD Lysosomal Storage Disorder
GOSR2Epilepsy, progressive myoclonic 6604027EPI Epilepsy Panel
GPD1Hypertriglyceridemia, transient infantile614480FH
GPIHBP1Hyperlipoproteinemia, type 1D615947FH
GPR56Polymicrogyria, bilateral frontoparietal606854EPI Epilepsy Panel
GPSM2Chudley-McCullough syndrome604213EPI Epilepsy Panel
GREM1 (incl. 5'UTR)Polyposis syndrome, mixed hereditary 1 (HMPS1)603054HCPHereditary Cancer Panels
GRIN1Developmental and epileptic encephalopathy 101619814EPI Epilepsy Panel
GRIN2AEpilepsy, focal, with speech disorder and with or without mental retardation138253EPI Epilepsy Panel
GRIN2BEpileptic encephalopathy, early infantile, 27138252EPI Epilepsy Panel
GRIN2DDevelopmental and epileptic encephalopathy 46617162EPI Epilepsy Panel
GRNCeroid lipofuscinosis, neuronal, 11614706EPI Epilepsy Panel
GUSBMucopolysaccharidosis VII253220LSD Lysosomal Storage Disorder
HAMPHemochromatosis, type 2B613313HFE Hyperferritinemia Panel
HARSCharcot-Marie-Tooth disease, axonal, type 2W616625CMT Charcot-Marie-Tooth
HCN1Epileptic encephalopathy, early infantile, 24602780EPI Epilepsy Panel
HEXAGM2-gangliosidosis,272800LSD Lysosomal Storage Disorder
HEXBSandhoff disease,268800LSD Lysosomal Storage Disorder
HFEHemochromatosis235200HFE Hyperferritinemia Panel
HFE2Hemochromatosis, type 2A602390HFE Hyperferritinemia Panel
HGSNATMucopolysaccharidosis IIIC252930LSD Lysosomal Storage Disorder
HINT1Neuromyotonia and axonal neuropathy, autosomal recessive137200CMT Charcot-Marie-Tooth
HNRNPUDevelopmental and epileptic encephalopathy 54617391EPI Epilepsy Panel
HOXB13Prostate Cancer604607HCPHereditary Cancer Panels
HSPB1Charcot-Marie-Tooth disease, axonal, type 2F606595CMT Charcot-Marie-Tooth
HSPB3Neuronopathy, distal hereditary motor, type IIC613376CMT Charcot-Marie-Tooth
HSPB8Charcot-Marie-Tooth disease, axonal, type 2L 
Neuropathy, distal hereditary motor, type IIA
CMT Charcot-Marie-Tooth
HYAL1Mucopolysaccharidosis IX601492LSD Lysosomal Storage Disorder
IDSMucopolysaccharidosis II309900LSD Lysosomal Storage Disorder
IDUAMucopolysaccharidosis I607014LSD Lysosomal Storage Disorder
INF2Glomerulosclerosis, focal segmental, 5/Charcot-Marie-Tooth disease, dominant intermediate E610982AHUSAtypical Hemolytic Uremic Syndrome Panel
IGHMBP2CMT2S Dhmn6616155, 604320CMT Charcot-Marie-Tooth
INF2Charcot-Marie-Tooth disease, dominant intermediate E614455CMT Charcot-Marie-Tooth
ITPADevelopmental and epileptic encephalopathy 35616647EPI Epilepsy Panel
JAG1Alagille syndrome 1118450CMT Charcot-Marie-Tooth
JAK2Polycythemia vera, somatic263300Q-PCR Polymerase Chain Reaction - quantitative
KANSL1Koolen-De Vries syndrome610443EPI Epilepsy Panel
KARSCharcot-Marie-Tooth disease, recessive intermediate, B613641CMT Charcot-Marie-Tooth
KATNB1Lissencephaly 6, with microcephaly616212EPI Epilepsy Panel
KCNA1Episodic ataxia/myokymia syndrome160120EPI Epilepsy Panel
KCNA2Developmental and epileptic encephalopathy 32616366EPI Epilepsy Panel
KCNB1Developmental and epileptic encephalopathy 26616056EPI Epilepsy Panel
KCNC1Epilepsy, progressive myoclonic 7176258EPI Epilepsy Panel
KCNH5Develpmental and epileptic encephalopathy 112620537EPI Epilepsy Panel
KCNJ10SESAME syndrome602208EPI Epilepsy Panel
KCNMA1Cerebellar atrophy, developmental delay, and seizures
Liang-Wang syndrome
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
EPI Epilepsy Panel
KCNQ2Epileptic encephalopathy, early infantile, 7602235EPI Epilepsy Panel
KCNQ3Seizures, benign neonatal, type 2602232EPI Epilepsy Panel
KCNT1Epileptic encephalopathy, early infantile, 14608167EPI Epilepsy Panel
KCTD7Epilepsy, progressive myoclonic 3, with or without intracellular inclusions611725EPI Epilepsy Panel
KCTD7Epilepsy, progressive myoclonic 3611726EPI Epilepsy Panel
KDM5CMental retardation, X-linked, syndromic, Claes-Jensen type300534EPI Epilepsy Panel
KIAA1279Goldberg-Shprintzen megacolon syndrome609460EPI Epilepsy Panel
KIAA2022 (NEXMIF)Intellectual development disorder300912EPI Epilepsy Panel
KIF1BCMT2A1118210CMT Charcot-Marie-Tooth
KIF2ACortical dysplasia, complex, with other brain malformations 3615411EPI Epilepsy Panel
KIF5ASpastic paraplegia 10, autosomal dominant604187CMT Charcot-Marie-Tooth
KITGastrointestinal stromal tumor, familial606764HCPHereditary Cancer Panels
KRAS/NRAS(FFPE)Lung cancer, somatic 
Gastric cancer, somatic
Cancer HS Ion AmpliSeq Cancer Hotspot Panel V2
LAMA2Muscular dystrophy, congenital, merosin deficient or partially deficient
Muscular dystrophy, limb-girdle, autosomal recessive 23
EPI Epilepsy Panel
LAMP2Danon disease300257LSD Lysosomal Storage Disorder
LARGE1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
EPI Epilepsy Panel
LCATFish-eye disease; Norum disease136120
LDLRHypercholesterolemia, familial, 1143890FH
LDLRAP1Hypercholesterolemia, familial, 4603813FH
LGI1Epilepsy, familial temporal lobe, 1600512EPI Epilepsy Panel
LIPACholesteryl ester storage disease/ Wolman disease278000LSD Lysosomal Storage Disorder/FH
LIPCHepatic lipase deficiency614025FH
LITAFCharcot-Marie-Tooth disease, type 1C601098CMT Charcot-Marie-Tooth
LMF1Lipase deficiency, combined246650FH
LMNACharcot-Marie-Tooth disease, type 2B1605588CMT Charcot-Marie-Tooth
LMNB2Epilepsy, progressive myoclonic, 9150341EPI Epilepsy Panel
LPLLipoprotein lipase deficiency238600FH
LRSAM1CMT2P614436CMT Charcot-Marie-Tooth
LZTR1Schwannomatosis-2, susceptibility to615670HCPHereditary Cancer Panels
MAN2B1Mannosidosis, alpha-, types I and II248500LSD Lysosomal Storage Disorder
MANBAMannosidosis, beta248510LSD Lysosomal Storage Disorder
MARSCMT2U616280CMT Charcot-Marie-Tooth
MAXPheochromocytoma, susceptibility to171300HCPHereditary Cancer Panels
MBD5Mental retardation, autosomal dominant 1611472EPI Epilepsy Panel
MCM3APPeripheral neuropathy, autosomal recessive, with or without impaired intellectual development618124CMT Charcot-Marie-Tooth
MCOLN1Mucolipidosis IV252650LSD Lysosomal Storage Disorder
MDH2Developmental and epileptic encephalopathy 51617339EPI Epilepsy Panel
MECP2Rett syndrome 
Encephalopathy, neonatal severe 
Mental retardation 
X-linked syndromic
MECP2Rett syndrome/Encephalopathy, neonatal severe/Mental retardation, X-linked, syndromic 13/Mental retardation, X-linked syndromic, Lubs type300005EPI Epilepsy Panel
MED25CMT2B2605589CMT Charcot-Marie-Tooth
MEF2CMental retardation, stereotypic movements, epilepsy, and/or cerebral malformations600662EPI Epilepsy Panel
MEN1Multiple endocrine neoplasia 1131100SingleSingle
MEN1Adrenal adenoma, somatic, Angiofibroma, somatic, Carcinoid tumor of lung, Lipoma, somatic, Multiple endocrine neoplasia 1, Parathyroid adenoma, somatic613733HCPHereditary Cancer Panels
METRenal cell carcinoma, papillary, 1, familial and somatic605074HCPHereditary Cancer Panels
MFN2Charcot-Marie-Tooth disease, type 2A2 
Hereditary motor and sensory neuropathy VIA
CMT Charcot-Marie-Tooth
MFSD8Ceroid lipofuscinosis, neuronal, 7610951EPI Epilepsy Panel
MFSD8Ceroid lipofuscinosis, neuronal, 7610951LSD Lysosomal Storage Disorder
MGME1Mitochondrial DNA depletion syndrome 11615076MITO Mitochondrial Genome sequence panel
MITFMelanoma, cutaneous malignant, susceptibility to, 8614456HCPHereditary Cancer Panels
MLH1 (incl. 5'UTR)Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 
Muir-Torre syndrome
HCPHereditary Cancer Panels
MLH3Colorectal cancer, hereditary nonpolyposis, type 7614385HCPHereditary Cancer Panels
MMACHCMethylmalonic aciduria and homocystinuria, cblC type609831AHUSAtypical Hemolytic Uremic Syndrome Panel
MMADHCHomocystinuria, cblD type, variant 1 / Methylmalonic aciduria and homocystinuria, cblD type611935AHUSAtypical Hemolytic Uremic Syndrome Panel
MMECharcot-Marie-Tooth disease, axonal, type 2T617017CMT Charcot-Marie-Tooth
MOCS1Molybdenum cofactor deficiency A603707EPI Epilepsy Panel
MORC2Charcot-Marie-Tooth disease, axonal, type 2Z616688CMT Charcot-Marie-Tooth
MPV17Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)137960MITO Mitochondrial Genome sequence panel
MPZCharcot-Marie-Tooth disease, dominant intermediate D, 1B, 2I, 2J 
Dejerine-Sottas disease 
Neuropathy, congenital
607791, 118200, 607677, 607736
CMT Charcot-Marie-Tooth
MSH2 (incl. 5'UTR)Colorectal cancer, hereditary nonpolyposis, type 1
Mismatch repair cancer syndrome 
Muir-Torre syndrome
HCPHereditary Cancer Panels
MSH3Endometrial carcinoma, somatic, Familial adenomatous polyposis 4600887HCPHereditary Cancer Panels
MSH6Colorectal cancer, hereditary nonpolyposis, type 5 
Endometrial cancer, familial 
Mismatch repair cancer syndrome
HCPHereditary Cancer Panels
MT-ATP6Leigh syndrome, NARP, Lactic Acidosis/ Seizures516060MITO Mitochondrial Genome sequence panel
MT-ATP8Infantile hypertrophic cardiomyopathy,516070MITO Mitochondrial Genome sequence panel
MT-CO1EXIT/Myoglobinuria, DEAF, Therapy-resistant Epilepsy516030MITO Mitochondrial Genome sequence panel
MT-CO2Myopathy, EXIT, Sensory Neural Hearing Loss, Encephalomyopathy, Lactic Acidosis516040MITO Mitochondrial Genome sequence panel
MT-CO3MELAS, Myopathy & Myoglobinuria, Leigh syndrome-like, PEM,516050MITO Mitochondrial Genome sequence panel
MT-CYBEXIT, MELAS, Hypertrophic Cardiomyopathy516020MITO Mitochondrial Genome sequence panel
MT-ND1Alzheimer & Parkinson Disease, MELAS, LHON516000MITO Mitochondrial Genome sequence panel
MT-ND2Alzheimer Disease516001MITO Mitochondrial Genome sequence panel
MT-ND3Leigh syndrome / Dystonia / Stroke516002MITO Mitochondrial Genome sequence panel
MT-ND4Leigh syndrome516003MITO Mitochondrial Genome sequence panel
MT-ND4LMT-ND4L516004MITO Mitochondrial Genome sequence panel
MT-ND5MELAS, Leigh syndrome516005MITO Mitochondrial Genome sequence panel
MT-ND6LHON, Leigh syndrome516006, 535000MITO Mitochondrial Genome sequence panel
MT-RNR1DEAF, Deafness, Diabetes Mellitus561000MITO Mitochondrial Genome sequence panel
MT-RNR2DEAF, Rett Syndrome, MELAS, Alzheimer & Parkinson Disease561010MITO Mitochondrial Genome sequence panel
MT-TAMyopathy, Progressive external ophthalmoplegia590000MITO Mitochondrial Genome sequence panel
MT-TCProgressive Dystonia, Encephalopathy, Deafness590020MITO Mitochondrial Genome sequence panel
MT-TDMyoclonus and Psychomotor Regression, Mitochondrial Myopathy590015MITO Mitochondrial Genome sequence panel
MT-TEMitochondrial Encephalomyopathy, Mitochondrial Myopathy, PEM, Leukoencephalopathy, Retinopathy590025MITO Mitochondrial Genome sequence panel
MT-TFMyoglobinuria, Tubulo-interstitial nephritis, Deafness, MERF, MELAS, Mitochondrial Myopathy590070MITO Mitochondrial Genome sequence panel
MT-TGPEM, Gastrointestinal Reflux and Sudden Infant Death, MHCH, CIPO590035MITO Mitochondrial Genome sequence panel
MT-THDeafness, MICM, MERRF-MELAS/ cerebral edema590040MITO Mitochondrial Genome sequence panel
MT-TICPEO, PEM, Maternally Inherited Cardiomyopathy590045MITO Mitochondrial Genome sequence panel
MT-TKMERRF, Mitochondrial cytopathy, MNGIE590060MITO Mitochondrial Genome sequence panel
MT-TL1MERRF/Kearns Sayre syndrome overlap, PEM590050MITO Mitochondrial Genome sequence panel
MT-TL2Mitochondrial Myopathy, CPEO, Dilated Cardiomyopathy, Kearns Sayre syndrome590055MITO Mitochondrial Genome sequence panel
MT-TMMitochondrial Myopathy590065MITO Mitochondrial Genome sequence panel
MT-TNCPEO, Myopathy, Encephalomyopathy590010MITO Mitochondrial Genome sequence panel
MT-TPMERRF-like disease, Ataxia+RP+deafness, Mitochondrial cytopathy590075MITO Mitochondrial Genome sequence panel
MT-TQMELAS/ encephalopathy, Myopathy590030MITO Mitochondrial Genome sequence panel
MT-TRMitochondrial Myopathy, Encephalomyopathy590005MITO Mitochondrial Genome sequence panel
MT-TS1Deafness; Sensory Neural Hearing Loss, Mitochondrial Myopathy, Encephalomyopathy590080MITO Mitochondrial Genome sequence panel
MT-TS2CIPO, Diabetes Mellitus & Deafness, Myopathy / Encephalopathy590085MITO Mitochondrial Genome sequence panel
MT-TTMitochondrial Myopathy, Infantile Mitochondrial Myopathy590090MITO Mitochondrial Genome sequence panel
MT-TVLeigh syndrome, MELAS, Encephalomyopathy, ataxia, myoclonus, and deafness590105MITO Mitochondrial Genome sequence panel
MT-TWEncephalomyopathy, Mitochondrial Myopathy590095MITO Mitochondrial Genome sequence panel
MT-TWLeigh syndrome, Encephalomyopathy, Myopathy590095MITO Mitochondrial Genome sequence panel
MT-TYMitochondrial Myopathy, Exercise Intolerance, Mitochondrial Myopathy Cytopathy590100MITO Mitochondrial Genome sequence panel
MTMR2CMT4B1601382CMT Charcot-Marie-Tooth
MUTYHAdenomas, multiple colorectal 
Gastric cancer, somatic
HCPHereditary Cancer Panels
NAGASchindler disease609241,
LSD Lysosomal Storage Disorder
NAGLUCharcot-Marie-Tooth disease, axonal, type 2V616491CMT Charcot-Marie-Tooth
NAGLUMucopolysaccharidosis IIIB252920LSD Lysosomal Storage Disorder
NBNNijmegen breakage syndrome251260HCPHereditary Cancer Panels
ND1,4,6Leber Hereditary Optic Neuropathy535000PCR-R Polymerase Chain Reaction - restriction
NDE1Lissencephaly 4 (with microcephaly)614019EPI Epilepsy Panel
NDRG1CMT4D601455CMT Charcot-Marie-Tooth
NEFHCharcot-Marie-Tooth disease, axonal, type 2CC616924CMT Charcot-Marie-Tooth
NEFLCharcot-Marie-Tooth disease, type 1F, 2E607734, 607684CMT Charcot-Marie-Tooth
NEU1Sialidosis256550LSD Lysosomal Storage Disorder
NEU1Sialidosis, type I/ type II608272EPI Epilepsy Panel
NF1Neurofibromatosis, type 1162200HCPHereditary Cancer Panels
NF2Neurofibromatosis, type 2 
Schwannomatosis, somatic
HCPHereditary Cancer Panels
NGLY1Congenital disorder of deglycosylation 1615273EPI Epilepsy Panel
NHLRC1Epilepsy, progressive myoclonic 2B (Lafora)608072EPI Epilepsy Panel
NOTCH3CADASIL125310single single
NPC1Niemann-Pick disease 1257220LSD Lysosomal Storage Disorder
NPC2Niemann-Pick disease 2607625LSD Lysosomal Storage Disorder
NPRL2Epilepsy, familial focal, with variable foci 2617116EPI Epilepsy Panel
NPRL3Epilepsy, familial focal, with variable foci 3617118EPI Epilepsy Panel
NRXN1Pitt-Hopkins-like syndrome 2600565EPI Epilepsy Panel
NTHL1Familial adenomatous polyposis 3602656HCPHereditary Cancer Panels
OCLNPseudo-TORCH syndrome 1251290EPI Epilepsy Panel
OPA1Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)605290MITO Mitochondrial Genome sequence panel
OPA3 (isoformA&B)3-methylglutaconic aciduria, type III, Optic atrophy 3 with cataract606580MITO Mitochondrial Genome sequence panel
OTCOrnithine transcarbamylase deficiency311250UCD Urea Cycle Disorders
PAFAH1B1Lissencephaly 1, Subcortical laminar heterotopia607432EPI Epilepsy Panel
PAK3Mental retardation, X-linked 30/47300558EPI Epilepsy Panel
PALB2Breast cancer, susceptibility 
Pancreatic cancer, susceptibility
HCPHereditary Cancer Panels
PCDH19Epileptic encephalopathy, early infantile, 9300460EPI Epilepsy Panel
PCSK9Hypercholesterolemia, familial, 3603776FH
PDGFRAGastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial175510HCPHereditary Cancer Panels
PDK3CMTX6300905CMT Charcot-Marie-Tooth
PDXKNeuropathy, hereditary motor and sensory, type VIC, with optic atrophy618511CMT Charcot-Marie-Tooth
PHF6Borjeson-Forssman-Lehmann syndrome301900EPI Epilepsy Panel
PHGDHNeu-Laxova syndrome 1/Phosphoglycerate dehydrogenase deficiency606879EPI Epilepsy Panel
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome 2300868EPI Epilepsy Panel
PIGGNeurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy616917EPI Epilepsy Panel
PIGNMultiple congenital anomalies-hypotonia-seizures syndrome 1614080EPI Epilepsy Panel
PIGOHyperphosphatasia with impaired intellectual development syndrome 2614749EPI Epilepsy Panel
PIGTMultiple congenital anomalie-hypotonia-seizures syndrome 3615398EPI Epilepsy Panel
PIGVHyperphosphatasia with impaired intellectual development syndrome 1239300EPI Epilepsy Panel
KCNC1Epilepsy, progressive myoclonic 7176258EPI Epilepsy Panel
PLCB1Epileptic encephalopathy, early infantile, 12607120EPI Epilepsy Panel
PLEKHG5Charcot-Marie-Tooth disease, recessive intermediate C615376CMT Charcot-Marie-Tooth
PLGDysplasminogenemia173350AHUSAtypical Hemolytic Uremic Syndrome Panel
PLPBPEpilepsy, early-onset, vitamin B6-dependent617290EPI Epilepsy Panel
PMP2Charcot-Marie-Tooth disease, demyelinating, type 1G618279CMT Charcot-Marie-Tooth
PMP22Charcot-Marie-Tooth disease, type 1A, 1E 
Neuropathy, recurrent, with pressure palsies 
Dejerine-Sottas disease
118220, 118300
CMT Charcot-Marie-Tooth
PMS2Colorectal cancer, hereditary nonpolyposis 
Mismatch repair cancer syndrome
HCPHereditary Cancer Panels
PNKPCharcot-Marie-Tooth disease, type 2B2605589CMT Charcot-Marie-Tooth
PNKPAtaxia-oculomotor apraxia 4/Microcephaly, seizures, and developmental delay605610EPI Epilepsy Panel
PNPOPyridoxamine 5'-phosphate oxidase deficiency603287EPI Epilepsy Panel
POLD1Colorectal Cancer174761HCPHereditary Cancer Panels
POLEColorectal cancer 12471762HCPHereditary Cancer Panels
POLGMitochondrial 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 1174763EPI Epilepsy Panel
POLGMitochondrial DNA depletion syndrome 4A, 4B, Progressive external ophthalmoplegia AD 1, AR1174763MITO Mitochondrial Genome sequence panel
POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4604983MITO Mitochondrial Genome sequence panel
POMGNT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3253280EPI Epilepsy Panel
POMGNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
EPI Epilepsy Panel
POMKMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12615249EPI Epilepsy Panel
POMT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1236670EPI Epilepsy Panel
POMT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2613150EPI Epilepsy Panel
POT1Glioma susceptibility 9
Melanoma, cutaneous malignant, susceptibility to, 10
HCPHereditary Cancer Panels
PPT1Ceroid lipofuscinosis, neuronal, 1256730EPI Epilepsy Panel
PPT1Ceroid lipofuscinosis, neuronal, 1256730LSD Lysosomal Storage Disorder
PRICKLE1Epilepsy, progressive myoclonic 1B612437EPI Epilepsy Panel
PRKAR1ACarney complex, type 1160980HCPHereditary Cancer Panels
PRPS1CMTX5311070CMT Charcot-Marie-Tooth
PRRT2Convulsions, familial infantile, with paroxysmal choreoathetosis/Episodic kinesigenic dyskinesia 1/Seizures, benign familial infantile, 2614386EPI Epilepsy Panel
PRXCharcot-Marie-Tooth disease, type 4F 
Dejerine-Sottas disease
CMT Charcot-Marie-Tooth
PSAPMetachromatic leukodystrophy due to SAP-b deficiency249900LSD Lysosomal Storage Disorder
PSAT1Phosphoserine aminotransferase deficiency/Neu-Laxova syndrome 2610936EPI Epilepsy Panel
PSPHPhosphoserine phosphatase deficiency172480EPI Epilepsy Panel
PTCH1Basal cell nevus syndrome109400HCPHereditary Cancer Panels
PTEN (incl. 5'UTR)Cowden syndrome 1 
Endometrial carcinoma, somatic 
Malignant melanoma, somatic 
Prostate cancer, somatic
HCPHereditary Cancer Panels
PTRH2Infantile-onset multisystem neurologic, endocrine, and pancreatic disease616263CMT Charcot-Marie-Tooth
PURANeurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties616158EPI Epilepsy Panel
RAB7ACharcot-Marie-Tooth disease, type 2B600882CMT Charcot-Marie-Tooth
RAB18Warburg micro syndrome 3614222EPI Epilepsy Panel
RAB39BMental retardation, X-linked 72300271EPI Epilepsy Panel
RAB3GAP1Warburg micro syndrome 1600118EPI Epilepsy Panel
RAB3GAP2Warburg micro syndrome 2614225EPI Epilepsy Panel
RAD51CBreast-ovarian cancer, familial, susceptibility613399HCPHereditary Cancer Panels
RAD51DBreast-ovarian cancer, familial, susceptibility614291HCPHereditary Cancer Panels
RB1Retinoblastoma180200HCPHereditary Cancer Panels
RECQL 600537HCPHereditary Cancer Panels
RELNLissencephaly 2 (Norman-Roberts type)
Epilepsy, familial temporal lobe, 7
EPI Epilepsy Panel
RETMultiple endocrine neoplasia IIA
Multiple endocrine neoplasia IIB
HCPHereditary Cancer Panels
RETMedullary thyroid carcinoma 
Multiple endocrine neoplasia IIA, IIB 
Hirschsprung disease
171400, 162300
RNF43Sessile serrated polyposis cancer syndrome617108HCPHereditary Cancer Panels
ROGDIKohlschutter-Tonz syndrome226750EPI Epilepsy Panel
RPS20 603682HCPHereditary Cancer Panels
RRM2BMitochondrial DNA depletion syndrome 8A, 8B, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5604712MITO Mitochondrial Genome sequence panel
RTTNMicrocephaly, short stature, and polymicrogyria with seizures614833EPI Epilepsy Panel
SAR1BChylomicron retention disease246700FH
SBF1Charcot-Marie-Tooth disease, type 4B3615284CMT Charcot-Marie-Tooth
SBF2CMT4B2604563CMT Charcot-Marie-Tooth
SCARB1High density lipoprotein cholesterol level QTL6610762FH
SCARB2Epilepsy, progressive myoclonic 4, with or without renal failure602257EPI Epilepsy Panel
SCN1ADravet syndrome/Epilepsy, generalized, with febrile seizures plus, type 2/Febrile seizures, familial, 3A/Migraine, familial hemiplegic, 3182389EPI Epilepsy Panel
SCN1BEpilepsy, generalized, with febrile seizures plus, type 1/Atrial fibrillation, familial, 13/Brugada syndrome 5600235EPI Epilepsy Panel
SCN2AEpileptic encephalopathy, early infantile, 11/Seizures, benign familial infantile, 3182390EPI Epilepsy Panel
SCN3ADevelpmental and epileptic encephalopathy 62; Epilepsy, familial focal, with variable foci 4614749
EPI Epilepsy Panel
SCN4AHyperkalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 2 Paramyotonia congenital, Myotonia congenita,170500, 613345, 168300, 608390singlesingle
SCN8AEpileptic encephalopathy, early infantile, 13/Seizures, benign familial infantile, 5600702EPI Epilepsy Panel
SCO2Mitochondrial complex IV deficiency, nuclear type 2604377CMT Charcot-Marie-Tooth
SDHAParagangliomas 5614165HCPHereditary Cancer Panels
SDHAF2Paragangliomas 2601650HCPHereditary Cancer Panels
SDHBCowden syndrome 2 , Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma , Paragangliomas 4, Pheochromocytoma185470HCPHereditary Cancer Panels
SDHCGastrointestinal stromal tumor 
Paraganglioma and gastric stromal sarcoma 
Paragangliomas 3
HCPHereditary Cancer Panels
SDHDParaganglioma and gastric stromal sarcoma
Paragangliomas 1, with or without deafness
HCPHereditary Cancer Panels
SEC23BDyserythropoietic anemia, congenital, type II224100HFE Hyperferritinemia Panel
SELRC1Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3618387CMT Charcot-Marie-Tooth
SEPT9Amyotrophy, hereditary neuralgic162100CMT Charcot-Marie-Tooth
SERPINI1Encephalopathy, familial, with neuroserpin inclusion bodies604218EPI Epilepsy Panel
SETXSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2606002CMT Charcot-Marie-Tooth
SGCEDystonia-11, myoclonic159900EPI Epilepsy Panel
SGPL1Nephrotic syndrome, type 14617575CMT Charcot-Marie-Tooth
SGSHMucopolysaccharidosis IIIA252900LSD Lysosomal Storage Disorder
SH3TC2Charcot-Marie-Tooth disease, type 4C601596CMT Charcot-Marie-Tooth
SIGMAR1Spinal muscular atrophy, distal, autosomal recessive, 2605726CMT Charcot-Marie-Tooth
SLC2A1Dystonia 9/GLUT1 deficiency syndrome 1, infantile onset, severe/GLUT1 deficiency syndrome 2, childhood onset/Epilepsy, idiopathic generalized, susceptibility to, 12138140EPI Epilepsy Panel
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy218000CMT Charcot-Marie-Tooth
SLC6A1Myoclonic-atonic epilepsy616421EPI Epilepsy Panel
SLC6A8Cerebral creatine deficiency syndrome 1300036EPI Epilepsy Panel
SLC7A7Lysinuric protein intolerance222700UCD Urea Cycle Disorders
SLC9A3R1Nephrolithiasis/osteoporosis, hypophosphatemic, 2612287CMT Charcot-Marie-Tooth
SLC9A6Mental retardation, X-linked syndromic, Christianson type300231EPI Epilepsy Panel
SLC12A5Developmental and epileptic encephalopathy 34616645EPI Epilepsy Panel
SLC13A5Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta615905EPI Epilepsy Panel
SLC17A5Sialic acid storage disorder 
Salla disease
LSD Lysosomal Storage Disorder
SLC19A3Thiamine metabolism dysfunction syndrome 2 (biotin-or-thiamine-responsive encephalopathy type 2)607483EPI Epilepsy Panel
SLC25A2Hyperornithinemia hyperammonemia homocitrullinuria (HHH) syndrome238970UCD Urea Cycle Disorders
SLC25A4Mitochondrial DNA depletion syndrome 12A-AD, 12B-AR, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2103220MITO Mitochondrial Genome sequence panel
SLC25A12Developmental and epileptic encephalopathy 39612949EPI Epilepsy Panel
SLC25A13Citrullinemia type II / NCCID605814,
UCD Urea Cycle Disorders
SLC25A15Hyperornithinemia hyperammonemia homocitrullinuria (HHH) syndrome238970UCD Urea Cycle Disorders
SLC25A22Developmental and epileptic encephalopathy 3609304EPI Epilepsy Panel
SLC25A38Anemia, sideroblastic, 2, pyridoxine-refractory205950HFE Hyperferritinemia Panel
SLC35A2Congenital disorder of glycosylation, type IIm300896EPI Epilepsy Panel
SLC40A1Hemochromatosis, type 4606069HFE Hyperferritinemia Panel
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 
Polyposis, juvenile intestinal 
Pancreatic cancer, somatic
HCPHereditary Cancer Panels
SMARCA2Nicolaides-Baraitser syndrome601358EPI Epilepsy Panel
SMARCA4Rhabdoid tumor predisposition syndrome 2613325HCPHereditary Cancer Panels
SMARCB1Rhabdoid tumor predisposition syndrome 1 
Schwannomatosis-1, susceptibility to
HCPHereditary Cancer Panels
SMARCE1Meningioma, familial, susceptibility to607174HCPHereditary Cancer Panels
SMPD1Niemann-Pick disease A/B222700,
LSD Lysosomal Storage Disorder
SNAP29Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528EPI Epilepsy Panel
SORDSorbitol dehydrogenase deficiency with peripheral neuropathy618912CMT Charcot-Marie-Tooth
SPATA5Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities616577EPI Epilepsy Panel
SPG7 (isoform1&2)Spastic paraplegia 7, autosomal recessive602783MITO Mitochondrial Genome sequence panel
SPG11Charcot-Marie-Tooth disease, axonal, type 2X616668CMT Charcot-Marie-Tooth
SPTAN1Epileptic encephalopathy, early infantile, 5182810EPI Epilepsy Panel
SPTLC1Neuropathy, hereditary sensory and autonomic, type IA162400single single  CMT Charcot-Marie-Tooth
SRD5A3Congenital disorder of glycosylation, type Iq
Kahrizi syndrome
EPI Epilepsy Panel
ST3GAL5Salt and pepper developmental regression609056EPI Epilepsy Panel
STAP1Familial hypercholesterolemia604298FH
STEAP3Anemia, hypochromic microcytic, with iron overload615324HFE Hyperferritinemia Panel
ST3GAL1{Hemolytic uremic syndrome, atypical, susceptibility to} not listed607187AHUSAtypical Hemolytic Uremic Syndrome Panel
STK11Melanoma, malignant, somatic, Pancreatic cancer 
Peutz-Jeghers syndrome
HCPHereditary Cancer Panels
STX1BGeneralized epilepsy with febrile seizures plus, type 9616172EPI Epilepsy Panel
STXBP1Epileptic encephalopathy, early infantile, 4602926EPI Epilepsy Panel
SUCLA2Mitochondrial DNA depletion syndrome 5603921MITO Mitochondrial Genome sequence panel
SUCLG1Mitochondrial DNA depletion syndrome 9611224MITO Mitochondrial Genome sequence panel
SUFUMeningioma, familial, susceptibility to
Basal cell nevus syndrome
Medulloblastoma, desmoplastic
HCPHereditary Cancer Panels
SUMF1Multiple sulfatase deficiency272200LSD Lysosomal Storage Disorder
SUOXSulfite oxidase deficiency606887EPI Epilepsy Panel
SURF1Charcot-Marie-Tooth disease, type 4K616684CMT Charcot-Marie-Tooth
SYN1Epilepsy, X-linked, with variable learning disabilities and behavior disorders300491EPI Epilepsy Panel
SYNGAP1Mental retardation, autosomal dominant 5603384EPI Epilepsy Panel
SYNJ1Developmental and epileptic encephalopathy 53617389EPI Epilepsy Panel
SZT2Developmental and epileptic encephalopathy 18615476EPI Epilepsy Panel
TBC1D24Epileptic encephalopathy, early infantile, 16/Myoclonic epilepsy, infantile, familial/DOOR syndrome613577EPI Epilepsy Panel
TCF4Corneal dystrophy, Fuchs endothelial, 3/Pitt-Hopkins syndrome602272EPI Epilepsy Panel
TFAtransferrinemia209300HFE Hyperferritinemia Panel
TFGHereditary motor and sensory neuropathy, Okinawa type604484CMT Charcot-Marie-Tooth
TFR2Hemochromatosis, type 3604250HFE Hyperferritinemia Panel
THBD{Hemolytic uremic syndrome, atypical, susceptibility to, 6}188040AHUSAtypical Hemolytic Uremic Syndrome Panel
TK2Mitochondrial DNA depletion syndrome 2188250MITO Mitochondrial Genome sequence panel
TMEM127Pheochromocytoma, susceptibility to171300HCPHereditary Cancer Panels
TP53 (incl. 5'UTR)Breast cancer 
Colorectal cancer 
Li-Fraumeni syndrome 
Pancreatic cancer
HCPHereditary Cancer Panels
TPP1Ceroid lipofuscinosis, neuronal, 2204500EPI Epilepsy Panel
TPP1Ceroid lipofuscinosis, neuronal,607998LSD Lysosomal Storage Disorder
TRIM2Charcot-Marie-Tooth disease, type 2R615490CMT Charcot-Marie-Tooth
TRPM3Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures620224EPI Epilepsy Panel
TRPV4Hereditary motor and sensory neuropathy, type IIc606071CMT Charcot-Marie-Tooth
TSC1Lymphangioleiomyomatosis/Tuberous sclerosis-1605284EPI Epilepsy Panel
TSC1Tuberous sclerosis-1191100HCPHereditary Cancer Panels
TSC2Lymphangioleiomyomatosis, somatic/Tuberous sclerosis-2191092EPI Epilepsy Panel
TSC2Tuberous sclerosis-2613254HCPHereditary Cancer Panels
TTRAmyloidosis, hereditary, transthyretin-related 
Carpal tunnel syndrome, familial
single single  CMT Charcot-Marie-Tooth
TUBA1ALissencephaly 3611603EPI Epilepsy Panel
TUBBCortical dysplasia, complex, with other brain malformations 6615771EPI Epilepsy Panel
TUBB2ACortical dysplasia, complex, with other brain malformations 5615763EPI Epilepsy Panel
TUBB2BCortical dysplasia, complex, with other brain malformations 7610031EPI Epilepsy Panel
TUBB3Cortical dysplasia, complex, with other brain malformations 1614039EPI Epilepsy Panel
TWNKMitochondrial DNA depletion syndrome 7 (hepatocerebral type)606075MITO Mitochondrial Genome sequence panel
TYMPMitochondrial DNA depletion syndrome 1131222MITO Mitochondrial Genome sequence panel
UBA5Developmental and epileptic encephalopathy 44617132EPI Epilepsy Panel
UBE3AAngelman syndrome601623EPI Epilepsy Panel
VCPCharcot-Marie-Tooth disease, type 2Y616687CMT Charcot-Marie-Tooth
Renal cell carcinoma, somatic
von Hippel-Lindau syndrome
HCPHereditary Cancer Panels
VLDLRCerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1224050EPI Epilepsy Panel
VRK1Pontocerebellar hypoplasia type 1A607596CMT Charcot-Marie-Tooth
VWFvon Willebrand disease, type 1 / type 2A, 2B, 2M, 2N / type 3613160AHUSAtypical Hemolytic Uremic Syndrome Panel
WARSNeuronopathy, distal hereditary motor, type IX617721CMT Charcot-Marie-Tooth
WDR45Neurodegeneration with brain iron accumulation 5300894EPI Epilepsy Panel
WDR62Microcephaly 2, primary, autosomal recessive, with or without cortical malformations604317EPI Epilepsy Panel
WWOXDevelopmental and epileptic encephalopathy 28616211EPI Epilepsy Panel
YARSCharcot-Marie-Tooth disease, dominant intermediate C608323CMT Charcot-Marie-Tooth
YWHAGDevelopmental and epileptic encephalopathy 56617665EPI Epilepsy Panel
ZEB2Mowat-Wilson syndrome605802EPI Epilepsy Panel