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Gene/Test Disorder OMIM No. Panel
AARS CMT type 2N 613287 CMT Charcot-Marie-Tooth
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
ALAS2 Anemia, sideroblastic, 1 300731,
300732
HFE Hyperferritinemia Panel
ALDH7A1 Epilepsy, pyridoxine-dependent 107323 EPI Epilepsy Panel
AMT Glycine encephalopathy 238310 EPI Epilepsy Panel
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
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
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
B2M Amyloidosis, familial visceral 105200 HFE Hyperferritinemia Panel
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
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
CDAN1 Dyserythropoietic anemia, congenital, type Ia 224120 HFEHyperferritinemia 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
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
CFHR1 {Hemolytic uremic syndrome, atypical, susceptibility to} 134371 AHUSAtypical Hemolytic Uremic Syndrome Panel
CFHR2 {Hemolytic uremic syndrome, atypical, susceptibility to} not listed 600889 AHUSAtypical Hemolytic Uremic Syndrome Panel
CFHR3 {Hemolytic uremic syndrome, atypical, susceptibility to} 605336 AHUSAtypical Hemolytic Uremic Syndrome Panel
CFHR4 {Hemolytic uremic syndrome, atypical, susceptibility to} not listed 605337 AHUSAtypical Hemolytic Uremic Syndrome Panel
CFHR5 Nephropathy due to CFHR5 deficiency 608593 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
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
CP Carbamoyl phosphate synthetase I deficiency 237300 HFE Hyperferritinemia 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
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
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
EPISIGN METHYLATION 7q11.23 duplication AD Cerebeller Ataxia, Deafness, Narcolepsy ADNP-related disorders/Hellsmoortal-Vander Aa syndrome, Alpha-thalassemia/intellectual disability syndrome,Angelman syndrome, BAFopathy,including Coffin Siris & Nicolaides-Baraitser, Beckwith-Wiedemann syndrome, CHARGE syndrome, Claes-Jenson syndrome, Cornelia de Lange syndrome, (ADCADN), Down syndrome, Floating Harbor syndrome, Fragile X syndrome, Genitopatellar (SBBYS) syndrome, Kabuki syndrome, Sotos syndrome, Prader Willi syndrome, Russell-Silver syndrome, Williams syndrome EPISIGNEpisign Whole Genome Methylation Assay
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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 / Type B,5 / Type C,5 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
FTH1 Hemochromatosis, type 5 615517 HFE Hyperferritinemia Panel
FTL Hyperferritinemia-cataract syndrome 600886 HFE Hyperferritinemia Panel
FUCA1 Fucosidosis 230000 LSD Lysosomal Storage Disorder
GAA Glycogen storage disease II 232300 LSD Lysosomal Storage Disorder
GABRA1 Developmental and epileptic encephalopathy 19 615744 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
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
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
GUSB Mucopolysaccharidosis VII 253220 LSD Lysosomal Storage Disorder
HAMP Hemochromatosis, type 2B 613313 HFE Hyperferritinemia Panel
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
HFE Hemochromatosis 235200 HFE Hyperferritinemia Panel
HFE2 Hemochromatosis, type 2A 602390 HFE Hyperferritinemia Panel
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
KCNC1 Epilepsy, progressive myoclonic 7 176258 EPI Epilepsy Panel
KCNA2 Developmental and epileptic encephalopathy 32 616366 EPI Epilepsy Panel
KCNB1 Developmental and epileptic encephalopathy 26 616056 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
KDM5C Mental retardation, X-linked, syndromic, Claes-Jensen type 300534 EPI Epilepsy Panel
KIAA1279 Goldberg-Shprintzen megacolon syndrome 609460 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
LGI1 Epilepsy, familial temporal lobe, 1 600512 EPI Epilepsy Panel
LIPA Cholesteryl ester storage disease/ Wolman disease 278000 LSD Lysosomal Storage Disorder
LITAF Charcot-Marie-Tooth disease, type 1C 601098 CMT Charcot-Marie-Tooth
LMNA Charcot-Marie-Tooth disease, type 2B1 605588 CMT Charcot-Marie-Tooth
LMNB2 Epilepsy, progressive myoclonic, 9 150341 EPI Epilepsy Panel
LRSAM1 CMT2P 614436 CMT Charcot-Marie-Tooth
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 Homocystinuria, cblD type, variant 1 / Methylmalonic aciduria and homocystinuria, cblD type 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
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
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
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
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
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
SBF1 Charcot-Marie-Tooth disease, type 4B3 615284 CMT Charcot-Marie-Tooth
SBF2 CMT4B2 604563 CMT Charcot-Marie-Tooth
SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure 602257 EPI Epilepsy Panel
SCN1A Dravet syndrome/Epilepsy, generalized, with febrile seizures plus, type 2/Febrile seizures, familial, 3A/Migraine, familial hemiplegic, 3 182389 EPI Epilepsy Panel
SCN1B Epilepsy, generalized, with febrile seizures plus, type 1/Atrial fibrillation, familial, 13/Brugada syndrome 5 600235 EPI Epilepsy Panel
SCN2A Epileptic encephalopathy, early infantile, 11/Seizures, benign familial infantile, 3 182390 EPI Epilepsy Panel
SCN4A Hyperkalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 2 Paramyotonia congenital, Myotonia congenita, 170500, 613345, 168300, 608390 singlesingle
SCN8A Epileptic encephalopathy, early infantile, 13/Seizures, benign familial infantile, 5 600702 EPI Epilepsy Panel
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
SEC23B Dyserythropoietic anemia, congenital, type II 224100 HFE Hyperferritinemia Panel
SELRC1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 618387 CMT Charcot-Marie-Tooth
SEPT9 Amyotrophy, hereditary neuralgic 162100 CMT Charcot-Marie-Tooth
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
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
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
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory 205950 HFE Hyperferritinemia Panel
SLC35A2 Congenital disorder of glycosylation, type IIm 300896 EPI Epilepsy Panel
SLC40A1 Hemochromatosis, type 4 606069 HFE Hyperferritinemia Panel
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Polyposis, juvenile intestinal
Pancreatic cancer, somatic
175050
174900
260350
HCPHereditary Cancer Panels
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
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
STEAP3 Anemia, hypochromic microcytic, with iron overload 615324 HFE Hyperferritinemia Panel
ST3GAL1 {Hemolytic uremic syndrome, atypical, susceptibility to} not listed 607187 AHUSAtypical Hemolytic Uremic Syndrome Panel
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
TF Atransferrinemia 209300 HFE Hyperferritinemia Panel
TFG Hereditary motor and sensory neuropathy, Okinawa type 604484 CMT Charcot-Marie-Tooth
TFR2 Hemochromatosis, type 3 604250 HFE Hyperferritinemia Panel
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
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
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
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
Schulich School of Medicine and Dentistry London Health Sciences CentreSt. Joseph's Health Care LondonWestern University