| Gene/Test | Disorder | OMIM No. | Panel |
| AARS | CMT type 2N | 613287 | CMT Charcot-Marie-Tooth |
| AARS1 | Neuromuscular Diseases | 601065 | Neuromuscular Diseases Panel |
| ABAT | GABA-transaminase deficiency | 613163 | EPI Epilepsy Panel |
| ABCA1 | HDL deficiency, Tangier Disease | 600046 | FH |
| ABCA1 | Neuromuscular Diseases | 600046 | Neuromuscular Diseases Panel |
| ABCG5 | Sitosterolemia 2 | 605459 | FH |
| ABCG8 | Sitosterolemia 1 | 605460 | FH |
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | CMT Charcot-Marie-Tooth |
| ABHD12 | Neuromuscular Diseases | 613599 | Neuromuscular Diseases Panel |
| ABHD5 | Neuromuscular Diseases | 604780 | Neuromuscular Diseases Panel |
| ACAD9 | Neuromuscular Diseases | 611103 | Neuromuscular Diseases Panel |
| ACADL | Neuromuscular Diseases | 609576 | Neuromuscular Diseases Panel |
| ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency | 201450 | single |
| ACADM | Neuromuscular Diseases | 607008 | Neuromuscular Diseases Panel |
| ACADVL | Neuromuscular Diseases | 609575 | Neuromuscular Diseases Panel |
| ACE | Renal Tubular Dysgenesis | 106180 | CKD |
| ACTA1 | Neuromuscular Diseases | 102610 | Neuromuscular Diseases Panel |
| ACTB | Baraitser-Winter syndrome 1 | 243310 | EPI Epilepsy Panel |
| ACTG1 | Baraitser-Winter syndrome 2 | 614583 | EPI Epilepsy Panel |
| ACTG2 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | 102545 | CKD |
| ACTN2 | Neuromuscular Diseases | 102573 | Neuromuscular Diseases Panel |
| ACTN2 | Neuromuscular Diseases | 102573 | Neuromuscular Diseases Panel |
| ACTN4 | Glomerulosclerosis, focal segmental | 604638 | CKD |
| ACVR1 | Neuromuscular Diseases | 102576 | Neuromuscular Diseases Panel |
| ACVR1 | Neuromuscular Diseases | 102576 | Neuromuscular Diseases Panel |
| ADSL | Adenylosuccinase deficiency | 103050 | EPI Epilepsy Panel |
| ADSS1 | Neuromuscular Diseases | 612498 | Neuromuscular Diseases Panel |
| AFF3 | KINSSHIP syndrome | 601464 | CKD |
| AFG2A | Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities | 616577 | EPI Epilepsy Panel |
| AGA | Aspartylglucosaminuria | 205400 | LSD Lysosomal Storage Disorder |
| AGL | Neuromuscular Diseases | 610860 | Neuromuscular Diseases Panel |
| AGRN | Neuromuscular Diseases | 103320 | Neuromuscular Diseases Panel |
| AGRN | Neuromuscular Diseases | 103320 | Neuromuscular Diseases Panel |
| AGT | Renal tubular dysgenesis | 106150 | CKD |
| AGTPBP1 | Neuromuscular Diseases | 606830 | Neuromuscular Diseases Panel |
| AGTR1 | Renal tubular dysgenesis | 106165 | CKD |
| AGXT | Hyperoxaluria, primary | 604285 | CKD |
| AHI1 | Joubert Syndrome | 608894 | CKD |
| AHNAK2 | Neuromuscular Diseases | 608570 | Neuromuscular Diseases Panel |
| AIFM1 | Neuromuscular Diseases | 300169 | Neuromuscular Diseases Panel |
| AIFM1 (VARIANT1) | Cowchock Syndrome (CMTX4) | 310490 | CMT Charcot-Marie-Tooth |
| AIP(incl. 5'UTR) | Pituitary adenoma 1, multiple types(CMTX4) | 102200 | HCPHereditary Cancer Panels |
| AIRE | Autoimmune polyendocrinopathy syndrome, with or without metaphyseal dysplasia | 607358 | CKD |
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | EPI Epilepsy Panel |
| ALDH7A1 | Epilepsy, pyridoxine-dependent | 107323 | EPI Epilepsy Panel |
| ALDOA | Neuromuscular Diseases | 103850 | Neuromuscular Diseases Panel |
| ALG1 | Congenital disorder of glycosylation, type Ik | 605907 | CKD |
| ALG13 | Developmental and epileptic encephalopathy 36 | 300884 | EPI Epilepsy Panel |
| ALG14 | Neuromuscular Diseases | 612866 | Neuromuscular Diseases Panel |
| ALG2 | Neuromuscular Diseases | 607905 | Neuromuscular Diseases Panel |
| ALG5 | Polycystic kidney disease | 604565 | CKD |
| ALG8 | Congenital disorder of glycosylation, type Ih/ polycystic liver disease with or without kidney cysts | 608103 | CKD |
| ALG9 | Congenital disorder of glycosylation, type II/ Gillessen-Kaesbach-Nishimura syndrome | 606941 | CKD |
| ALMS1 | Alstrom syndrome | 606844 | CKD |
| ALPL | Hypophosphatasia/ Odontohypophosphatasia | 171760 | CKD |
| AMMECR1 | Midface hypoplasia, hearing development, elliptocytosis, and nephrocalcinosis | 300195 | CKD |
| AMN | Imerslund-Grasbeck syndrome | 605799 | CKD |
| AMPD1 | Neuromuscular Diseases | 102770 | Neuromuscular Diseases Panel |
| AMT | Glycine encephalopathy | 238310 | EPI Epilepsy Panel |
| ANGPTL3 | Hypobetalipoproteinemia | 604774 | FH |
| ANKS6 | Nephronophthisis | 615370 | CKD |
| ANLN | Focal segmental glomerulosclerosis | 616032 | CKD |
| ANO5 | Neuromuscular Diseases | 608662 | Neuromuscular Diseases Panel |
| ANOS1 | Kallmann syndrome | 300836 | CKD |
| AP2S1 | Hypocalciuric hypercalcemia | 602242 | CKD |
| AP3B2 | Developmental and epileptic encephalopathy 48 | 617276 | EPI Epilepsy Panel |
| APC(incl. 5’UTR) | Adenomatous polyposis coli Gastric cancer, somatic | 175100 613659 | HCPHereditary Cancer Panels |
| APOA1 | Hypoalphalipoproteinemia | 107680 | FH |
| APOA1 | Amyloidosis/ Hypoalphalipoproteinemia | 107680 | CKD |
| APOA2 | ? Apolipoprotein A-II deficiency | 107670 | CKD |
| APOA4 | Tubulointerstitial kidney disease | 107690 | CKD |
| APOA5 | Hyperchylomicronemia | 606368 | FH |
| APOB | Hypobetalipoproteinemia | 107730 | FH |
| APOC2 | Hyperlipoproteinemia | 608083 | FH |
| APOC2 | Hyperlipoproteinemia | 608083 | CKD |
| APOC3 | Apoliprotein C-III deficiency | 107720 | FH |
| APOE | Hyperlipoproteinemia type III | 107741 | FH |
| APOE | Hyperlipoproteinemia/ Lipoprotein glomerulopathy *testing for dementia not available | 107741 | CKD |
| APOL1 | Glomerulosclerosis, focal segmental, susceptibility | 603743 | CKD |
| APRT | Adenine phosphoribosyltransferase deficiency | 102600 | CKD |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 606350 | MITO Mitochondrial Genome sequence panel |
| APTX | Neuromuscular Diseases | 606350 | Neuromuscular Diseases Panel |
| AQP2 | Diabetes insipidus, nephrogenic | 107777 | CKD |
| ARFGEF2 | Periventricular heterotopia with microcephaly | 608097 | EPI Epilepsy Panel |
| ARG1 | Arginase deficiency | 207800 | UCD Urea Cycle Disorders |
| ARHGDIA | Nephrotic syndrome | 601925 | CKD |
| ARHGEF10 | Slowed nerve conduction velocity, AD | 608236 | CMT Charcot-Marie-Tooth |
| ARHGEF10 | Neuromuscular Diseases | 608136 | Neuromuscular Diseases Panel |
| ARHGEF28 | ARHGEF28 associated syndrome | 612790 | CMT Charcot-Marie-Tooth |
| ARHGEF9 | Developmental and epileptic encephalopathy 8 | 300607 | EPI Epilepsy Panel |
| ARL13B | Joubert syndrome | 608922 | CKD |
| ARL6 | Bardet-Biedl syndrome | 608845 | CKD |
| ARMC9 | Joubert syndrome | 617612 | CKD |
| ARSA | Metachromatic leukodystrophy | 250100 | LSD Lysosomal Storage Disorder |
| ARSA | Neuromuscular Diseases | 607574 | Neuromuscular Diseases Panel |
| 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 |
| ASAH1 | Neuromuscular Diseases | 613468 | Neuromuscular Diseases Panel |
| ASCC1 | Neuromuscular Diseases | 614215 | Neuromuscular Diseases Panel |
| ASCC3 | Neuromuscular Diseases | 614217 | Neuromuscular Diseases 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 |
| ATL1 | Neuromuscular Diseases | 606439 | Neuromuscular Diseases Panel |
| ATL3 | Neuromuscular Diseases | 609369 | Neuromuscular Diseases Panel |
| ATM | Ataxia-telangiectasia Breast cancer, susceptibility to | 208900 114480 | HCPHereditary Cancer Panels |
| ATM | Neuromuscular Diseases | 607585 | Neuromuscular Diseases Panel |
| ATP1A1 | Charcot-Marie-Tooth disease, axonal, type 2DD | 618036 | CMT Charcot-Marie-Tooth |
| ATP1A1 | Neuromuscular Diseases | 182310 | Neuromuscular Diseases Panel |
| ATP1A1 | Hypomagnesemia, seizures, and impaired intellectual development | 182310 | CKD |
| ATP1A2 | Developmental and epileptic encephalopathy 98 | 619605 | EPI Epilepsy Panel |
| ATP1A2 | Neuromuscular Diseases | 182340 | Neuromuscular Diseases Panel |
| ATP1A3 | Alternating hemiplegia of childhood 2 | 182350 | EPI Epilepsy Panel |
| ATP2A1 | Neuromuscular Diseases | 108730 | Neuromuscular Diseases Panel |
| ATP2A1 | Neuromuscular Diseases | 108730 | Neuromuscular Diseases Panel |
| ATP5F1D | Neuromuscular Diseases | 603150 | Neuromuscular Diseases Panel |
| ATP6V0A2 | Cutis laxa, autosomal recessive, type IIA | 219200 | EPI Epilepsy Panel |
| ATP6V0A4 | Distal renal tubular acidosis with or without sensorineural hearing loss | 605239 | CKD |
| ATP6V1B1 | Distal renal tubular acidosis with or without sensorineural hearing loss | 192132 | CKD |
| ATP7A | Spinal muscular atrophy, distal, X-linked 3 | 300489 | CMT Charcot-Marie-Tooth |
| ATP7A | Menkes disease | 309400 | EPI Epilepsy Panel |
| ATP7A | Neuromuscular Diseases | 300011 | Neuromuscular Diseases 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 |
| AVP | Diabetes insipidus, neurohypophyseal | 192340 | CKD |
| AVPR2 | Diabetes insipidus, nephrogenic/ Nephrogenic syndrome of inappropriate antidiuresis | 300538 | CKD |
| B/T Cell Lymphoma | Lymphoma, non-Hodgkin, somatic, lymphoproliferative disorders | 605027 | PCR Polymerase Chain Reaction |
| B2M | Amyloidosis | 620659 | CKD |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | 165181 | EPI Epilepsy Panel |
| B3GALNT2 | Neuromuscular Diseases | 610194 | Neuromuscular Diseases Panel |
| B4GALNT1 | Neuromuscular Diseases | 601873 | Neuromuscular Diseases Panel |
| B4GAT1 | Neuromuscular Diseases | 605517 | Neuromuscular Diseases Panel |
| B9D1 | Joubert syndrome | 614144 | CKD |
| B9D2 | Joubert syndrome | 611951 | CKD |
| BAG3 | Myopathy, myofibrillar, 6 | 612954 | CMT Charcot-Marie-Tooth |
| BAG3 | Neuromuscular Diseases | 603883 | Neuromuscular Diseases Panel |
| BAP1 | Tumor predisposition syndrome | 614327 | HCPHereditary Cancer Panels |
| BARD1 | Breast cancer, susceptibility | 114480 | HCPHereditary Cancer Panels |
| BBIP1 | Bardet Biedl syndrome | 613605 | CKD |
| BBS1 | Bardet Biedl syndrome | 209901 | CKD |
| BBS10 | Bardet Biedl syndrome | 610148 | CKD |
| BBS12 | Bardet Biedl syndrome | 610683 | CKD |
| BBS2 | Bardet Biedl syndrome | 606151 | CKD |
| BBS4 | Bardet Biedl syndrome | 600374 | CKD |
| BBS5 | Bardet Biedl syndrome | 603650 | CKD |
| BBS7 | Bardet Biedl syndrome | 607590 | CKD |
| BBS9 | Bardet Biedl syndrome | 607968 | CKD |
| BCKDHB | Neuromuscular Diseases | 248611 | Neuromuscular Diseases Panel |
| BCR-ABL | Leukemia, chronic myeloid, somatic | 608232 | Q-PCR Polymerase Chain Reaction - quantitative |
| BCS1L | Bjornstad syndrome/GRACILE syndrome/ Mitochondrial complex III deficiency | 603647 | CKD |
| BICD2 | Neuromuscular Diseases | 609797 | Neuromuscular Diseases Panel |
| BIN1 | Neuromuscular Diseases | 601248 | Neuromuscular Diseases Panel |
| BMP4 | Microphthalmia, syndromic | 112262 | CKD |
| BMPR1A (incl. 5'UTR) | Juvenile polyposis syndrome, infantile form Polyposis syndrome, hereditary mixed, | 174900 610069 | HCPHereditary Cancer Panels |
| BNC2 | Congenital lower urinary tract obstruction | 608669 | CKD |
| 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 |
| BSCL2 | Neuromuscular Diseases | 606158 | Neuromuscular Diseases Panel |
| BSND | Bartter syndrome/ sensorineural deafness with mild renal dysfunction | 606412 | CKD |
| BVES | Neuromuscular Diseases | 604577 | Neuromuscular Diseases Panel |
| C1GALT1C1 | Atypical hemolytic uremic syndrome with rhizomelic short stature | 300611 | CKD |
| C1QBP | Neuromuscular Diseases | 601269 | Neuromuscular Diseases Panel |
| C2CD3 | Orofacialdigital syndrome XIV | 615944 | CKD |
| C3 | {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, / C3 deficiency | 120700 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| C3 | Atypical hemolytic uremic syndrome, susceptibility | 120700 | CKD |
| C5 | C5 deficiency | 120900 | CKD |
| C9 | C9 deficiency | 120940 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| CA2 | Osteopetrosis with renal tubular acidosis | 611492 | CKD |
| CA5A | Hyperammonemia due to carbonic anhydrase VA deficiency | 114761 | UCDUrea Cycle Disorders |
| CACNA1A | Developemental and epileptic encephalopathy 42 | 617106 | EPI Epilepsy Panel |
| CACNA1A | Neuromuscular Diseases | 601011 | Neuromuscular Diseases Panel |
| CACNA1D | Primary aldosteronism, seizures and neurologic abnormalities/ Sinoatrial node dysfunction and deafness | 114206 | CKD |
| CACNA1E | Developmental and epileptic encephalopathy 69 | 618285 | EPI Epilepsy Panel |
| CACNA1H | Neuromuscular Diseases | 607904 | Neuromuscular Diseases Panel |
| CACNA1H | Hyperaldosteronism, familial | 607904 | CKD |
| CACNA1S | Neuromuscular Diseases | 114208 | Neuromuscular Diseases Panel |
| CACNA1S | Chronic Kidney disease panels | 114208 | CKD |
| CAD | Developmental and epileptic encephalopathy 50 | 616457 | EPI Epilepsy Panel |
| CADM3 | Neuromuscular Diseases | 609743 | Neuromuscular Diseases Panel |
| Cancer Hotspot(FFPE) | Tumour profiling using 2800 COSMIC variants | Cancer HS Ion AmpliSeq Cancer Hotspot Panel V2 | |
| CAPN3 | Neuromuscular Diseases | 114240 | Neuromuscular Diseases Panel |
| CAPN3 | Neuromuscular Diseases | 114240 | Neuromuscular Diseases Panel |
| CASQ1 | Neuromuscular Diseases | 114250 | Neuromuscular Diseases Panel |
| CASQ1 | Neuromuscular Diseases | 114250 | Neuromuscular Diseases Panel |
| CASR | Hypocalcemia, Hypocalciuric Hypercalcemia, Hypocalcemia with Bartter syndrome | 601199 | CKD |
| CAV3 | Neuromuscular Diseases | 601253 | Neuromuscular Diseases Panel |
| CAVIN1 | Neuromuscular Diseases | 603198 | Neuromuscular Diseases Panel |
| CC2D2A | Joubert syndrome, Meckel syndrome, COACH syndrome | 619111 | CKD |
| CCDC78 | Neuromuscular Diseases | 614666 | Neuromuscular Diseases Panel |
| CCNQ | STAR syndrome | 300708 | CKD |
| CCT5 | Neuromuscular Diseases | 610150 | Neuromuscular Diseases Panel |
| CD151 | Epidermolysis bullosa with nephropathy and deafness | 602243 | CKD |
| CD2AP | Focal segmental glomersclerosis | 604241 | CKD |
| CD46 | {Hemolytic uremic syndrome, atypical, susceptibility to, 2} | 120920 | AHUS Atypical Hemolytic Uremic Syndrome Panel |
| CD46 | Atypical hemolytic uremic syndrome | 120920 | CKD |
| CD59 | Neuromuscular Diseases | 107271 | Neuromuscular Diseases Panel |
| CD59 | Neuromuscular Diseases | 107271 | Neuromuscular Diseases Panel |
| CDC73 | Hyperparathyroidism, familial primary | 145000 | HCPHereditary Cancer Panels |
| CDC73 | Chronic Kidney disease panels | 607393 | CKD |
| 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 |
| CDKN1B | Multiple endocrine neoplasia | 600778 | CKD |
| CDKN2A | Melanoma and neural system tumor syndrome Pancreatic cancer/melanoma syndrome | 155755 606719 | HCPHereditary Cancer Panels |
| CDX2 | Chronic Kidney disease panels | 600297 | CKD |
| CELSR3 | Chronic Kidney disease panels | 604264 | CKD |
| CENPF | Stromme syndrome | 243605 | CKD |
| CEP104 | Joubert syndrome | 616690 | CKD |
| CEP164 | Nephronophthisis | 614848 | CKD |
| CEP290 | Joubert syndrome/ Meckel syndrome | 610142 | CKD |
| CEP41 | Joubert syndrome | 610523 | CKD |
| CEP55 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly | 610000 | CKD |
| CEP83 | Nephronophthisis | 615847 | CKD |
| CETP | Hyperalphalipoproteinemia | 118470 | FH |
| CFAP276 | Neuromuscular Diseases | 618682 | Neuromuscular Diseases Panel |
| CFB | {Hemolytic uremic syndrome, atypical, susceptibility to, 4} | 138470 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| CFB | Atypical hemolytic uremic syndrome, susceptibility | 138470 | CKD |
| CFH | {Hemolytic uremic syndrome, atypical, susceptibility to, 1} | 134370 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| CFH | Atypical hemolytic uremic syndrome, susceptibility | 134370 | CKD |
| CFHR1 | Atypical hemolytic uremic syndrome, susceptibility | 134371 | CKD |
| CFHR2 | Chronic Kidney disease panels | 600889 | CKD |
| CFHR3 | Atypical hemolytic uremic syndrome, susceptibility | 605336 | CKD |
| CFHR5 | Nephropathy due to CFHR5 deficiency | 608593 | CKD |
| CFI | {Hemolytic uremic syndrome, atypical, susceptibility to, 3} | 217030 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| CFI | Atypical hemolytic uremic syndrome, susceptibility | 217030 | CKD |
| CFL2 | Neuromuscular Diseases | 601443 | Neuromuscular Diseases Panel |
| CFTR | Cystic fibrosis Congenital bilateral absence of vas deferens | 219700 277180 | targeted |
| CHAT | Neuromuscular Diseases | 118490 | Neuromuscular Diseases Panel |
| CHAT | Neuromuscular Diseases | 118490 | Neuromuscular Diseases Panel |
| CHCHD10 | Neuromuscular Diseases | 615903 | Neuromuscular Diseases Panel |
| CHD2 | Epileptic encephalopathy, childhood-onset | 602119 | EPI Epilepsy Panel |
| CHD7 | CHARGE | 608892 | CKD |
| CHD8 | Neuromuscular Diseases | 610528 | Neuromuscular Diseases Panel |
| CHEK2 | Li-Fraumeni syndrome Breast cancer Prostate cancer, familial, | 609265 114480 176807 | HCPHereditary Cancer Panels |
| CHRM3 | Prune belly syndrome | 118494 | CKD |
| CHRNA1 | Neuromuscular Diseases | 100690 | Neuromuscular Diseases Panel |
| CHRNA3 | Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT | 118503 | CKD |
| CHRNA4 | Epilepsy, nocturnal frontal lobe, 1 | 600513 | EPI Epilepsy Panel |
| CHRNB1 | Neuromuscular Diseases | 100710 | Neuromuscular Diseases Panel |
| CHRNB2 | Epilepsy, nocturnal frontal lobe, 3 | 605375 | EPI Epilepsy Panel |
| CHRND | Neuromuscular Diseases | 100720 | Neuromuscular Diseases Panel |
| CHRND | Neuromuscular Diseases | 100720 | Neuromuscular Diseases Panel |
| CHRNE | Neuromuscular Diseases | 100725 | Neuromuscular Diseases Panel |
| CHRNE | Neuromuscular Diseases | 100725 | Neuromuscular Diseases Panel |
| CHRNG | Neuromuscular Diseases | 100730 | Neuromuscular Diseases Panel |
| CHRNG | Neuromuscular Diseases | 100730 | Neuromuscular Diseases Panel |
| CILK1 | Chronic Kidney disease panels | 612325 | CKD |
| CLCN1 | Neuromuscular Diseases | 118425 | Neuromuscular Diseases Panel |
| CLCN2 | Hyperaldosteronism | 600570 | CKD |
| CLCN4 | Raynaud-Claes syndrome | 300114 | EPI Epilepsy Panel |
| CLCN5 | Nephrolithiasis, Proteinuria with hypercalciuric nephrocalcinosis | 300008 | CKD |
| CLCNKA | Bartter syndrome | 613090 | CKD |
| CLCNKB | Bartter syndrome | 602023 | CKD |
| CLDN10 | HELIX syndrome | 617579 | CKD |
| CLDN16 | Hypomagnesemia, renal | 603959 | CKD |
| CLDN19 | Hypomagnesemia, renal, with ocular involvement | 610036 | CKD |
| CLN3 | Ceroid lipofuscinosis, neuronal, 3 | 204200 | LSD Lysosomal Storage Disorder |
| CLN3 | Neuromuscular Diseases | 607042 | Neuromuscular Diseases Panel |
| 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 |
| CLTCL1 | Neuromuscular Diseases | 601273 | Neuromuscular Diseases Panel |
| CNNM2 | Hypomagnesemia, renal | 607803 | CKD |
| CNTN1 | Neuromuscular Diseases | 600016 | Neuromuscular Diseases Panel |
| CNTNAP1 | Hypomyelinating neuropathy, congenital, 3 | 618186 | CMT Charcot-Marie-Tooth |
| CNTNAP1 | Neuromuscular Diseases | 602346 | Neuromuscular Diseases Panel |
| CNTNAP2 | Cortical dysplasia-focal epilepsy syndrome | 604569 | EPI Epilepsy Panel |
| COA7 | Neuromuscular Diseases | 615623 | Neuromuscular Diseases Panel |
| COL12A1 | Neuromuscular Diseases | 120320 | Neuromuscular Diseases Panel |
| COL13A1 | Neuromuscular Diseases | 120350 | Neuromuscular Diseases Panel |
| COL4A1 | Hereditary angiopathy with nephropathy, aneurysms and muscle cramps | 120130 | CKD |
| COL4A3 | Alport syndrome | 120070 | CKD |
| COL4A4 | Alport syndrome | 120131 | CKD |
| COL4A5 | Alport syndrome | 303630 | CKD |
| COL6A1 | Neuromuscular Diseases | 120220 | Neuromuscular Diseases Panel |
| COL6A2 | Neuromuscular Diseases | 120240 | Neuromuscular Diseases Panel |
| COL6A3 | Neuromuscular Diseases | 120250 | Neuromuscular Diseases Panel |
| COLQ | Neuromuscular Diseases | 603033 | Neuromuscular Diseases Panel |
| COQ2 | Coenzyme Q10 deficiency | 609825 | CKD |
| COQ4 | Neuromuscular Diseases | 612898 | Neuromuscular Diseases Panel |
| COQ6 | Coenzyme Q10 deficiency | 614647 | CKD |
| COQ8A | Neuromuscular Diseases | 606980 | Neuromuscular Diseases Panel |
| COQ8B | Nephrotic syndrome | 615567 | CKD |
| COX6A1 | Neuromuscular Diseases | 602072 | Neuromuscular Diseases Panel |
| CPLANE1 | Joubert syndrome | 614571 | CKD |
| CPOX | Neuromuscular Diseases | 612732 | Neuromuscular Diseases Panel |
| CPS1 | Carbamoyl phosphate synthetase I deficiency | 237300 | UCD Urea Cycle Disorders |
| CPT1A | Neuromuscular Diseases | 600528 | Neuromuscular Diseases Panel |
| CPT2 | Neuromuscular Diseases | 600650 | Neuromuscular Diseases Panel |
| CPT2 | CPTII deficiency | 600650 | CKD |
| CRB2 | Focal segmental glomerulosclerosis/ ventriculomegaly with cystic kidney disease | 609720 | CKD |
| CRPPA | Neuromuscular Diseases | 614631 | Neuromuscular Diseases Panel |
| CRYAB | Neuromuscular Diseases | 123590 | Neuromuscular Diseases Panel |
| CRYAB | Neuromuscular Diseases | 123590 | Neuromuscular Diseases Panel |
| CSPP1 | Joubert syndrome | 611654 | CKD |
| CSTB | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | 601145 | EPI Epilepsy Panel |
| CTDP1 | Neuromuscular Diseases | 604927 | Neuromuscular Diseases Panel |
| CTNNA1 | Hereditary diffuse gastric cancer | 116805 | HCPHereditary Cancer Panels |
| CTNS | Cystinosis | 219800, 219900 | LSD Lysosomal Storage Disorder |
| CTNS | Cystinosis | 606272 | CKD |
| CTSA | Galactosialidosis | 256540 | LSD Lysosomal Storage Disorder |
| CTSD | Ceroid lipofuscinosis, neuronal, 10 | 610127 | EPI Epilepsy Panel |
| CTSD | Ceroid lipofuscinosis, neuronal, 10 | 610127 | LSD Lysosomal Storage Disorder |
| CTSF | Ceroid lipofuscinosis, neuronal, 13 (Kufs type) | 615362 | EPI Epilepsy Panel |
| CTSK | Pycnodysostosis | 265800 | LSD Lysosomal Storage Disorder |
| CTU2 | Microcephaly, facial dysmorphism, renal agenesis and ambiguous genitalia syndrome | 617057 | CKD |
| CUBN | Chronic benign proteinuria | 602997 | CKD |
| CUL3 | Pseudohypoaldosteronism | 614496 | CKD |
| CYP11B1 | Aldosteronism/ 11 beta hydroxylase congenital adrenal hyperplasia | 610613 | CKD |
| CYP11B2 | Congenital hypoaldosteronism | 124080 | CKD |
| CYP17A1 | 17 alpha hydroxylase deficiency | 609300 | CKD |
| CYP21A2 | 21 hydroxylase congenital adrenal hyperplasia | 613815 | CKD |
| CYP24A1 | Infantile hypercalcemia | 126065 | CKD |
| CYP27A1 | Neuromuscular Diseases | 606530 | Neuromuscular Diseases Panel |
| CYP27B1 | Vitamin D-dependent rickets | 609506 | CKD |
| CYP2R1 | Rickets due to defect in vitamin D 25 hydroxylation deficiency | 608713 | CKD |
| DAAM2 | Nephrotic syndrome | 606627 | CKD |
| DAG1 | Neuromuscular Diseases | 128239 | Neuromuscular Diseases Panel |
| DAG1 | Neuromuscular Diseases | 128239 | Neuromuscular Diseases Panel |
| DARS2 | Neuromuscular Diseases | 610956 | Neuromuscular Diseases Panel |
| DCAF8 | Neuromuscular Diseases | 615820 | Neuromuscular Diseases Panel |
| DCDC2 | Nephronopthisis | 605755 | CKD |
| DCTN1 | Neuronopathy, distal hereditary motor, type VIIB | 607641 | CMT Charcot-Marie-Tooth |
| DCTN1 | Neuromuscular Diseases | 601143 | Neuromuscular Diseases Panel |
| DCTN2 | DCTN2 associated syndrome | 607376 | CMT Charcot-Marie-Tooth |
| DCX | Lissencephaly, X-linked | 300067 | EPI Epilepsy Panel |
| DDX59 | Orofacialdigital syndrome | 615464 | CKD |
| DEGS1 | Neuromuscular Diseases | 615843 | Neuromuscular Diseases Panel |
| DEPDC5 | Epilepsy, familial focal, with variable foci 1 | 604364 | EPI Epilepsy Panel |
| DES | Neuromuscular Diseases | 125660 | Neuromuscular Diseases Panel |
| DES | Neuromuscular Diseases | 125660 | Neuromuscular Diseases Panel |
| DGAT2 | DGAT2 associated syndrome | 606983 | CMT Charcot-Marie-Tooth |
| DGAT2 | Neuromuscular Diseases | 606983 | Neuromuscular Diseases Panel |
| DGKE | {Hemolytic uremic syndrome, atypical, susceptibility to, 7} | 601440 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| DGKE | Nephrotic syndrome, atypical hemolytic uremic syndrome susceptibility | 601440 | CKD |
| DGUOK | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 601465 | MITO Mitochondrial Genome sequence panel |
| DGUOK | Neuromuscular Diseases | 601465 | Neuromuscular Diseases Panel |
| DHCR7 | Smith-Lemli-Opitz syndrome | 602858 | CKD |
| DHTKD1 | Charcot-Marie-Tooth disease, axonal, type 2Q | 615025 | CMT Charcot-Marie-Tooth |
| DHTKD1 | Neuromuscular Diseases | 614984 | Neuromuscular Diseases Panel |
| DICER1 | Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors Pleuropulmonary blastoma Rhabdomyosarcoma, embryonal, 2 | 138800 601200 180295 | HCPHereditary Cancer Panels |
| DLC1 | Chronic Kidney Disease panels | 604258 | CKD |
| DLG5 | Yuksel-Vogel-Bauser syndrome | 604090 | CKD |
| DMD | Neuromuscular Diseases | 300377 | Neuromuscular Diseases Panel |
| DMP1 | Hypophosphatemic rickets | 600980 | CKD |
| DNA2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 601810 | MITO Mitochondrial Genome sequence panel |
| DNAJB11 | Polycystic kidney disease with or without polycystic liver | 611341 | CKD |
| DNAJB2 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | CMT Charcot-Marie-Tooth |
| DNAJB2 | Neuromuscular Diseases | 604139 | Neuromuscular Diseases Panel |
| DNAJB2(VARIANT1) | CMT2T | 604139 | CMT Charcot-Marie-Tooth |
| DNAJB4 | Neuromuscular Diseases | 611327 | Neuromuscular Diseases Panel |
| DNAJB6 | Neuromuscular Diseases | 611332 | Neuromuscular Diseases Panel |
| 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 |
| DNM2 | Neuromuscular Diseases | 602378 | Neuromuscular Diseases Panel |
| DNMT1 | Neuropathy, hereditary sensory, type IE | 614116 | CMT Charcot-Marie-Tooth |
| DNMT1 | Neuromuscular Diseases | 126375 | Neuromuscular Diseases Panel |
| DNMT3B | Neuromuscular Diseases | 602900 | Neuromuscular Diseases Panel |
| DOCK7 | Epileptic encephalopathy, early infantile, 23 | 615730 | EPI Epilepsy Panel |
| DOK7 | Neuromuscular Diseases | 610285 | Neuromuscular Diseases Panel |
| DOLK | Neuromuscular Diseases | 610746 | Neuromuscular Diseases Panel |
| DPAGT1 | Neuromuscular Diseases | 191350 | Neuromuscular Diseases Panel |
| DPM1 | Neuromuscular Diseases | 603503 | Neuromuscular Diseases Panel |
| DPM2 | Neuromuscular Diseases | 603564 | Neuromuscular Diseases Panel |
| DPM3 | Neuromuscular Diseases | 605951 | Neuromuscular Diseases Panel |
| DPYD Genotyping | Fluoropyrimidine toxicity | 612779 | targeted targeted |
| DRP2 | DRP2 associated syndrome | 300052 | CMT Charcot-Marie-Tooth |
| DST | Neuromuscular Diseases | 113810 | Neuromuscular Diseases Panel |
| DST | Neuromuscular Diseases | 113810 | Neuromuscular Diseases Panel |
| DSTYK | Congenital anomalies of the kidney and urinary tract (CAKUT) | 612666 | CKD |
| DUX4 | Neuromuscular Diseases | 606009 | Neuromuscular Diseases Panel |
| DYNC1H1 | CMT2O | 614228 | CMT Charcot-Marie-Tooth |
| DYNC1H1 | Mental retardation, autosomal dominant 13 | 614563 | EPI Epilepsy Panel |
| DYNC1H1 | Neuromuscular Diseases | 600112 | Neuromuscular Diseases Panel |
| DYNC2H1 | Short-rib thoracic dysplasia with or without polydactyly | 603297 | CKD |
| DYNC2I1 | Short-rib thoracic dysplasia with or without polydactyly | 615462 | CKD |
| DYRK1A | Mental retardation, autosomal dominant 7 | 614104 | EPI Epilepsy Panel |
| DYRK1A | Chronic kidney disease panels | 600855 | CKD |
| DYSF | Neuromuscular Diseases | 603009 | Neuromuscular Diseases Panel |
| DZIP1L | Polycystic kidney disease | 617570 | CKD |
| ECEL1 | Neuromuscular Diseases | 605896 | Neuromuscular Diseases 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 |
| EGR2 | Neuromuscular Diseases | 129010 | Neuromuscular Diseases Panel |
| EHHADH | ?Fanconi renotubular syndrome | 607037 | CKD |
| EHMT1 | Kleefstra syndrome 1 | 610253 | EPI Epilepsy Panel |
| ELP1 | Neuromuscular Diseases | 603722 | Neuromuscular Diseases Panel |
| EMD | Neuromuscular Diseases | 300384 | Neuromuscular Diseases Panel |
| ENO3 | Neuromuscular Diseases | 131370 | Neuromuscular Diseases Panel |
| ENPP1 | Hypophosphatemic rickets | 173335 | CKD |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8 | 613244 | HCPHereditary Cancer Panels |
| EPG5 | Neuromuscular Diseases | 615068 | Neuromuscular Diseases Panel |
| EPM2A | Epilepsy, progressive myoclonic 2A (Lafora) | 607566 | EPI Epilepsy Panel |
| ERCC6 | Neuromuscular Diseases | 609413 | Neuromuscular Diseases Panel |
| ERCC8 | Neuromuscular Diseases | 609412 | Neuromuscular Diseases Panel |
| ETFA | Neuromuscular Diseases | 608053 | Neuromuscular Diseases Panel |
| ETFB | Neuromuscular Diseases | 130410 | Neuromuscular Diseases Panel |
| ETFB | Neuromuscular Diseases | 130410 | Neuromuscular Diseases Panel |
| ETFDH | Neuromuscular Diseases | 231675 | Neuromuscular Diseases Panel |
| EXOC3L2 | Brain malformation renal syndrome | 616927 | CKD |
| EXOSC3 | Neuromuscular Diseases | 606489 | Neuromuscular Diseases Panel |
| EXT1 | Exostoses, multiple, type 1 | 133700 | HCPHereditary Cancer Panels |
| EXT2 | Exostoses, multiple, type 2 | 133701 | HCPHereditary Cancer Panels |
| EYA1 | Branchiootorenal syndrome, with or without cataracts | 601653 | CKD |
| F12 | Angioedema, hereditary, type III / Factor XII deficiency | 610619 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| FAH | Neuromuscular Diseases | 613871 | Neuromuscular Diseases Panel |
| FAH | Tyrosinemia | 613871 | CKD |
| FAM111A | Gracile bone dysplasia/ Kenny-Caffey syndrome | 615292 | CKD |
| FAM20A | Amelogenesis imperfecta (enamel-renal syndrome) | 611062 | CKD |
| FAM20C | Raine syndrome | 611061 | CKD |
| FAN1 | Interstitial nephritis, karyomegalic | 613534 | CKD |
| FAT1 | Chronic kidney disease panels | 600976 | CKD |
| FBLN5 | Neuropathy, hereditary, with or without age-related macular degeneration | 608895 | CMT Charcot-Marie-Tooth |
| FBLN5 | Neuromuscular Diseases | 604580 | Neuromuscular Diseases Panel |
| FBXL4 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 605654 | MITO Mitochondrial Genome sequence panel |
| FBXO38 | Neuromuscular Diseases | 608533 | Neuromuscular Diseases Panel |
| FDX2 | Neuromuscular Diseases | 614585 | Neuromuscular Diseases Panel |
| FGA | Amyloidosis | 134820 | CKD |
| FGD4 | CMT4H | 609311 | CMT Charcot-Marie-Tooth |
| FGD4 | Neuromuscular Diseases | 611104 | Neuromuscular Diseases Panel |
| FGF12 | Developmental and epileptic encephalopathy 47 | 617166 | EPI Epilepsy Panel |
| FGF23 | Hypophosphatemic rickets | 605380 | CKD |
| FH | Leiomyomatosis and renal cell cancer | 150800 | HCPHereditary Cancer Panels |
| FHL1 | Neuromuscular Diseases | 300163 | Neuromuscular Diseases Panel |
| FIG4 | Charcot-Marie-Tooth disease, type 4J | 611228 | CMT Charcot-Marie-Tooth |
| FIG4 | Neuromuscular Diseases | 609390 | Neuromuscular Diseases Panel |
| FKBP14 | Neuromuscular Diseases | 614505 | Neuromuscular Diseases Panel |
| FKRP | Candidate gene for atypical hemolytic uremic syndrome | 606596 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | 613153 606612 607155 | EPI Epilepsy Panel |
| FKRP | Neuromuscular Diseases | 606596 | Neuromuscular Diseases 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 |
| FKTN | Neuromuscular Diseases | 607440 | Neuromuscular Diseases Panel |
| FLAD1 | Neuromuscular Diseases | 610595 | Neuromuscular Diseases Panel |
| FLCN | Birt-Hogg-Dube syndrome , Colorectal cancer, somatic, Renal carcinoma, chromophobe, somatic | 607273 | HCPHereditary Cancer Panels |
| FLCN | Birt-Hogg-Dube | 607273 | CKD |
| FLNA | Heterotopia, periventricular, 1 | 300049 | EPI Epilepsy Panel |
| FLNC | Neuromuscular Diseases | 102565 | Neuromuscular Diseases Panel |
| FLVCR1 | Neuromuscular Diseases | 609144 | Neuromuscular Diseases Panel |
| FN1 | Glomerulopathy with fibronectin deposits | 135600 | CKD |
| FOLR1 | Neurodegeneration due to cerebral folate transport deficiency | 136430 | EPI Epilepsy Panel |
| FOXC1 | Chronic kidney disease panels | 601090 | CKD |
| FOXG1 | Rett syndrome, congenital variant | 164874 | EPI Epilepsy Panel |
| FOXI1 | Chronic kidney disease panels | 601093 | CKD |
| FOXP1 | Chronic kidney disease panels | 605515 | CKD |
| FRAS1 | Fraser syndrome | 607830 | CKD |
| FREM1 | Bifid nose with or without anorectal and renal anomalies | 608944 | CKD |
| FREM2 | Fraser syndrome | 608945 | CKD |
| FRRS1L | Developmental and epileptic encephalopathy 37 | 616981 | EPI Epilepsy Panel |
| FUCA1 | Fucosidosis | 230000 | LSD Lysosomal Storage Disorder |
| FXN | Neuromuscular Diseases | 606829 | Neuromuscular Diseases Panel |
| FXR1 | Neuromuscular Diseases | 600819 | Neuromuscular Diseases Panel |
| FXYD2 | Hypomagnesemia | 601814 | CKD |
| GAA | Glycogen storage disease II | 232300 | LSD Lysosomal Storage Disorder |
| GAA | Neuromuscular Diseases | 606800 | Neuromuscular Diseases Panel |
| GABBR2 | Developmental and epileptic encephalopathy 59 | 617904 | EPI Epilepsy Panel |
| GABRA1 | Developmental and epileptic encephalopathy 19 | 615744 | EPI Epilepsy Panel |
| GABRB2 | Developmental and epileptic encephalopathy 92 | 617829 | EPI Epilepsy Panel |
| GABRB3 | Developmental and epileptic encephalopathy 43 | 617113 | EPI Epilepsy Panel |
| GABRG2 | Developmental and epileptic encephalopathy 74 Epilepsy, generalized, with febrile seizures plus, type 3 Febrile seizures, familial, 8 | 618396 607681 607681 | EPI Epilepsy Panel |
| GALC | Krabbe disease | 245200 | LSD Lysosomal Storage Disorder |
| GALC | Neuromuscular Diseases | 606890 | Neuromuscular Diseases Panel |
| GALNS | Mucopolysaccharidosis IVA | 253000 | LSD Lysosomal Storage Disorder |
| GALNT12 | Colorectal cancer, susceptibility to, 1 | 608812 | HCPHereditary Cancer Panels |
| GALNT3 | Hyperphosphatemic tumoral calcinosis | 601756 | CKD |
| GAMT | Cerebral creatine deficiency syndrome 2 | 601240 | EPI Epilepsy Panel |
| GAN | Neuromuscular Diseases | 605379 | Neuromuscular Diseases Panel |
| GANAB | Polycystic kidney disease | 104160 | CKD |
| GARS | Charcot-Marie-Tooth disease, type 2D | 601472 | CMT Charcot-Marie-Tooth |
| GARS1 | Neuromuscular Diseases | 600287 | Neuromuscular Diseases Panel |
| GATA3 | Hyperparathyroidism, sensorineural deafness and renal dysplasia | 131320 | CKD |
| GATM | Neuromuscular Diseases | 602360 | Neuromuscular Diseases Panel |
| GATM | Fanconi renotubular syndrome | 602360 | CKD |
| GBA | Gaucher disease, | 608013 | LSD Lysosomal Storage Disorder |
| GBA2 | Neuromuscular Diseases | 609471 | Neuromuscular Diseases Panel |
| GBE1 | Neuromuscular Diseases | 607839 | Neuromuscular Diseases Panel |
| GBF1 | Neuromuscular Diseases | 603698 | Neuromuscular Diseases Panel |
| GCM2 | Hyperparathyroidism/ Hypoparathyroidism | 603716 | CKD |
| GDAP1 | Charcot-Marie-Tooth disease, axonal, type 2K, 4A | 607831, 214400 | CMT Charcot-Marie-Tooth |
| GDAP1 | Neuromuscular Diseases | 606598 | Neuromuscular Diseases Panel |
| GDF6 | Chronic kidney disease panels | 601147 | CKD |
| GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | 600924 | MITO Mitochondrial Genome sequence panel |
| GFPT1 | Neuromuscular Diseases | 138292 | Neuromuscular Diseases Panel |
| GFPT1 | Neuromuscular Diseases | 138292 | Neuromuscular Diseases Panel |
| GFRA1 | Renal hypodysplasia/aplasia | 601496 | CKD |
| GGPS1 | Neuromuscular Diseases | 606982 | Neuromuscular Diseases Panel |
| GIPC1 | Neuromuscular Diseases | 605072 | Neuromuscular Diseases Panel |
| GJB1 | Charcot-Marie-Tooth neuropathy, X-linked dominant | 302800 | CMT Charcot-Marie-Tooth |
| GJB1 | Neuromuscular Diseases | 304040 | Neuromuscular Diseases Panel |
| GJB2 | Deafness, autosomal dominant 3A Deafness, autosomal recessive 1A | 601544 220290 | SingleSingle |
| GJB3 | Neuromuscular Diseases | 603324 | Neuromuscular Diseases Panel |
| GJB6 | Deafness, autosomal dominant 3B Deafness, autosomal recessive 1B Deafness, digenic GJB2/GJB6 | 612643 612645 220290 | SingleSingle |
| GJC2 | Neuromuscular Diseases | 608803 | Neuromuscular Diseases Panel |
| GLA | Fabry disease | 301500 | LSD Lysosomal Storage Disorder |
| GLA | Neuromuscular Diseases | 300644 | Neuromuscular Diseases Panel |
| GLA | Fabry disease | 300644 | CKD |
| 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 |
| GLI3 | Chronic kidney disease panels | 165240 | CKD |
| GLIS2 | Nepronophthisis | 608539 | CKD |
| 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 |
| GMPPB | Neuromuscular Diseases | 615320 | Neuromuscular Diseases Panel |
| GNA11 | Hypocalciuric hypercalcemia | 139313 | CKD |
| GNAO1 | Developmental and epileptic encephalopathy 17 | 615473 | EPI Epilepsy Panel |
| GNAS | Chronic kidney disease panels | 139320 | CKD |
| GNB4 | Charcot-Marie-Tooth disease, dominant intermediate F | 615185 | CMT Charcot-Marie-Tooth |
| GNB4 | Neuromuscular Diseases | 610863 | Neuromuscular Diseases Panel |
| GNE | Neuromuscular Diseases | 603824 | Neuromuscular Diseases Panel |
| 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 |
| GOLGA2 | Neuromuscular Diseases | 602580 | Neuromuscular Diseases Panel |
| GON7 | Galloway-Mowat syndrome | 619603 | CKD |
| GOSR2 | Epilepsy, progressive myoclonic 6 | 604027 | EPI Epilepsy Panel |
| GOSR2 | Neuromuscular Diseases | 604027 | Neuromuscular Diseases Panel |
| GPC3 | Simpson-Golabi-Behmel syndrome | 312870 | CKD |
| GPD1 | Hypertriglyceridemia, transient infantile | 138420 | FH |
| GPIHBP1 | Hyperlipoproteinemia | 612757 | FH |
| GPNMB | Amyloidosis | 604368 | CKD |
| GPR56 | Polymicrogyria, bilateral frontoparietal | 606854 | EPI Epilepsy Panel |
| GPSM2 | Chudley-McCullough syndrome | 604213 | EPI Epilepsy Panel |
| GREB1L | Renal hypodysplasia/aplasia | 617782 | CKD |
| GREM1 (incl. 5'UTR) | Polyposis syndrome, mixed hereditary 1 (HMPS1) | 603054 | HCPHereditary Cancer Panels |
| GRHPR | Hyperoxaluria | 604296 | CKD |
| GRIN1 | Developmental and epileptic encephalopathy 101 | 619814 | EPI Epilepsy Panel |
| GRIN2A | Epilepsy, focal, with speech disorder and with or without mental retardation | 138253 | EPI Epilepsy Panel |
| GRIN2B | Epileptic encephalopathy, early infantile, 27 | 138252 | EPI Epilepsy Panel |
| GRIN2D | Developmental and epileptic encephalopathy 46 | 617162 | EPI Epilepsy Panel |
| GRIP1 | Fraser syndrome | 604597 | CKD |
| GRN | Ceroid lipofuscinosis, neuronal, 11 | 614706 | EPI Epilepsy Panel |
| GSN | Amyloidosis, Finnish type | 137350 | CKD |
| GUSB | Mucopolysaccharidosis VII | 253220 | LSD Lysosomal Storage Disorder |
| GYG1 | Neuromuscular Diseases | 603942 | Neuromuscular Diseases Panel |
| GYS1 | Neuromuscular Diseases | 138570 | Neuromuscular Diseases Panel |
| HAAO | Vertebral, cardiac, renal, limb defects syndrome | 604521 | CKD |
| HACD1 | Neuromuscular Diseases | 610467 | Neuromuscular Diseases Panel |
| HADHA | Neuromuscular Diseases | 600890 | Neuromuscular Diseases Panel |
| HADHB | Neuromuscular Diseases | 143450 | Neuromuscular Diseases Panel |
| HARS | Charcot-Marie-Tooth disease, axonal, type 2W | 616625 | CMT Charcot-Marie-Tooth |
| HARS1 | Neuromuscular Diseases | 142810 | Neuromuscular Diseases Panel |
| HCN1 | Epileptic encephalopathy, early infantile, 24 | 602780 | EPI Epilepsy Panel |
| HEXA | GM2-gangliosidosis, | 272800 | LSD Lysosomal Storage Disorder |
| HEXB | Sandhoff disease, | 268800 | LSD Lysosomal Storage Disorder |
| HGSNAT | Mucopolysaccharidosis IIIC | 252930 | LSD Lysosomal Storage Disorder |
| HINT1 | Neuromyotonia and axonal neuropathy, autosomal recessive | 137200 | CMT Charcot-Marie-Tooth |
| HINT1 | Neuromuscular Diseases | 601314 | Neuromuscular Diseases Panel |
| HK1 | Neuromuscular Diseases | 142600 | Neuromuscular Diseases Panel |
| HMBS | Neuromuscular Diseases | 609806 | Neuromuscular Diseases Panel |
| HNF1B | Renal cysts and diabetes syndrome | 189907 | CKD |
| HNF4A | Fanconi renotubular syndrome with maturity-onset diabetes of the young | 600281 | CKD |
| HNRNPA1 | Neuromuscular Diseases | 164017 | Neuromuscular Diseases Panel |
| HNRNPA2B1 | Neuromuscular Diseases | 600124 | Neuromuscular Diseases Panel |
| HNRNPDL | Neuromuscular Diseases | 607137 | Neuromuscular Diseases Panel |
| HNRNPU | Developmental and epileptic encephalopathy 54 | 617391 | EPI Epilepsy Panel |
| HOGA1 | Hyperoxaluria | 613597 | CKD |
| HOXA13 | Hand-foot-genital syndrome | 142959 | CKD |
| HOXB13 | Prostate Cancer | 604607 | HCPHereditary Cancer Panels |
| HOXD10 | Neuromuscular Diseases | 142984 | Neuromuscular Diseases Panel |
| HPRT1 | Hyperuricemia | 308000 | CKD |
| HPSE2 | Urofacial syndrome | 613469 | CKD |
| HRAS | Neuromuscular Diseases | 190020 | Neuromuscular Diseases Panel |
| HS2ST1 | Neurofacioskeletal syndrome with or without renal agenesis | 604844 | CKD |
| HSD11B2 | Apparent mineralocorticoid excess | 614232 | CKD |
| HSD3B2 | 3-beta-hydroxysteroid dehydrogenase congenital adrenal hyperplasia | 613890 | CKD |
| HSPA9 | Even-plus syndrome | 616854 | CKD |
| HSPB1 | Charcot-Marie-Tooth disease, axonal, type 2F | 606595 | CMT Charcot-Marie-Tooth |
| HSPB1 | Neuromuscular Diseases | 602195 | Neuromuscular Diseases Panel |
| HSPB3 | Neuronopathy, distal hereditary motor, type IIC | 613376 | CMT Charcot-Marie-Tooth |
| HSPB3 | Neuromuscular Diseases | 604624 | Neuromuscular Diseases Panel |
| HSPB8 | Charcot-Marie-Tooth disease, axonal, type 2L Neuropathy, distal hereditary motor, type IIA | 608673 158590 | CMT Charcot-Marie-Tooth |
| HSPB8 | Neuromuscular Diseases | 608014 | Neuromuscular Diseases Panel |
| HYAL1 | Mucopolysaccharidosis IX | 601492 | LSD Lysosomal Storage Disorder |
| HYCC1 | Neuromuscular Diseases | 610531 | Neuromuscular Diseases Panel |
| HYLS1 | Hydrolethalus syndrome | 610693 | CKD |
| IARS2 | Neuromuscular Diseases | 612801 | Neuromuscular Diseases Panel |
| IDS | Mucopolysaccharidosis II | 309900 | LSD Lysosomal Storage Disorder |
| IDUA | Mucopolysaccharidosis I | 607014 | LSD Lysosomal Storage Disorder |
| IFT122 | Cranioectodermal dysplasia | 606045 | CKD |
| IFT140 | Cranioectodermal dysplasia | 614620 | CKD |
| IFT172 | Bardet-Biedl syndrome | 607386 | CKD |
| IFT27 | Bardet-Biedl syndrome | 615870 | CKD |
| IFT43 | Short-rib thoracic dysplasia | 614068 | CKD |
| IFT54 | Senior-Loken | 607380 | CKD |
| IFT74 | Bardet-Biedl syndrome/ Joubert syndrome | 608040 | CKD |
| IGHMBP2 | CMT2S Dhmn6 | 616155, 604320 | CMT Charcot-Marie-Tooth |
| IGHMBP2 | Neuromuscular Diseases | 600502 | Neuromuscular Diseases Panel |
| INF2 | Glomerulosclerosis, focal segmental, 5/Charcot-Marie-Tooth disease, dominant intermediate E | 610982 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| INF2 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | CMT Charcot-Marie-Tooth |
| INF2 | Neuromuscular Diseases | 610982 | Neuromuscular Diseases Panel |
| INF2 | Focal segmental glomerulosclerosis | 610982 | CKD |
| INPP5K | Neuromuscular Diseases | 607875 | Neuromuscular Diseases Panel |
| INVS | Nephronophthisis | 243305 | CKD |
| IQCB1 | Senior-Loken syndrome | 609237 | CKD |
| ISCU | Neuromuscular Diseases | 611911 | Neuromuscular Diseases Panel |
| ITGA3 | Epidermolysis bullosa, junctional, with interstitial lung disease and nephrotic syndrome | 605025 | CKD |
| ITGA7 | Neuromuscular Diseases | 600536 | Neuromuscular Diseases Panel |
| ITGA8 | Renal hypodysplasia/ aplasia | 604063 | CKD |
| ITPA | Developmental and epileptic encephalopathy 35 | 616647 | EPI Epilepsy Panel |
| ITPR3 | Neuromuscular Diseases | 147267 | Neuromuscular Diseases Panel |
| ITSN1 | Congenital Kidney disease panel | 602442 | CKD |
| ITSN2 | Congenital Kidney disease panel | 604464 | CKD |
| JAG1 | Alagille syndrome 1 | 118450 | CMT Charcot-Marie-Tooth |
| JAG1 | Neuromuscular Diseases | 601920 | Neuromuscular Diseases Panel |
| JAG1 | Alagille syndrome | 601920 | CKD |
| JAG2 | Neuromuscular Diseases | 602570 | Neuromuscular Diseases Panel |
| JAK2 | Polycythemia vera, somatic | 263300 | Q-PCR Polymerase Chain Reaction - quantitative |
| KANK2 | Nephrotic syndrome | 614610 | CKD |
| KANSL1 | Koolen-De Vries syndrome | 610443 | EPI Epilepsy Panel |
| KARS | Charcot-Marie-Tooth disease, recessive intermediate, B | 613641 | CMT Charcot-Marie-Tooth |
| KARS1 | Neuromuscular Diseases | 601421 | Neuromuscular Diseases Panel |
| KAT6B | Genitopatellar syndrome | 606170 | CKD |
| KATNB1 | Lissencephaly 6, with microcephaly | 616212 | EPI Epilepsy Panel |
| KATNIP | Joubert syndrome | 616784 | CKD |
| KBTBD13 | Neuromuscular Diseases | 613727 | Neuromuscular Diseases Panel |
| KCNA1 | Episodic ataxia/myokymia syndrome | 160120 | EPI Epilepsy Panel |
| KCNA1 | Neuromuscular Diseases | 176260 | Neuromuscular Diseases Panel |
| KCNA1 | Episodic ataxia/myokymia syndrome | 176260 | CKD |
| KCNA2 | Developmental and epileptic encephalopathy 32 | 616366 | EPI Epilepsy Panel |
| KCNA2 | Neuromuscular Diseases | 176262 | Neuromuscular Diseases Panel |
| KCNB1 | Developmental and epileptic encephalopathy 26 | 616056 | EPI Epilepsy Panel |
| KCNC1 | Epilepsy, progressive myoclonic 7 | 176258 | EPI Epilepsy Panel |
| KCNE3 | Neuromuscular Diseases | 604433 | Neuromuscular Diseases Panel |
| KCNH5 | Develpmental and epileptic encephalopathy 112 | 620537 | EPI Epilepsy Panel |
| KCNJ1 | Bartter syndrome | 600359 | CKD |
| KCNJ10 | SESAME syndrome | 602208 | EPI Epilepsy Panel |
| KCNJ10 | SESAME syndrome | 612780 | CKD |
| KCNJ16 | Hypokalemic tubulopathy and deafness | 605722 | CKD |
| KCNJ18 | Neuromuscular Diseases | 613236 | Neuromuscular Diseases Panel |
| KCNJ2 | Neuromuscular Diseases | 600681 | Neuromuscular Diseases Panel |
| KCNJ5 | Hyperaldosteronism | 600734 | CKD |
| KCNMA1 | Cerebellar atrophy, developmental delay, and seizures Liang-Wang syndrome Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 617643 618729 609446 | EPI Epilepsy Panel |
| KCNQ2 | Epileptic encephalopathy, early infantile, 7 | 602235 | EPI Epilepsy Panel |
| KCNQ3 | Seizures, benign neonatal, type 2 | 602232 | EPI Epilepsy Panel |
| KCNT1 | Epileptic encephalopathy, early infantile, 14 | 608167 | EPI Epilepsy Panel |
| KCTD7 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | 611725 | EPI Epilepsy Panel |
| KCTD7 | Epilepsy, progressive myoclonic 3 | 611726 | EPI Epilepsy Panel |
| KDM2B | Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities | 609078 | CKD |
| KDM5C | Mental retardation, X-linked, syndromic, Claes-Jensen type | 300534 | EPI Epilepsy Panel |
| KIAA0586 | Joubert/ Short-rib thoracic dysplasia | 610178 | CKD |
| KIAA0753 | Short-rib thoracic dysplasia | 617112 | CKD |
| KIAA2022 (NEXMIF) | Intellectual development disorder | 300912 | EPI Epilepsy Panel |
| KIF14 | ?Meckel syndrome | 611279 | CKD |
| KIF1A | Neuromuscular Diseases | 601255 | Neuromuscular Diseases Panel |
| KIF1B | CMT2A1 | 118210 | CMT Charcot-Marie-Tooth |
| KIF1B | Neuromuscular Diseases | 605995 | Neuromuscular Diseases Panel |
| KIF2A | Cortical dysplasia, complex, with other brain malformations 3 | 615411 | EPI Epilepsy Panel |
| KIF5A | Spastic paraplegia 10, autosomal dominant | 604187 | CMT Charcot-Marie-Tooth |
| KIF5A | Neuromuscular Diseases | 602821 | Neuromuscular Diseases Panel |
| KIF7 | Joubert syndrome | 611254 | CKD |
| KIT | Gastrointestinal stromal tumor, familial | 606764 | HCPHereditary Cancer Panels |
| KLHL3 | Pseudohypoaldosteronism | 605775 | CKD |
| KLHL40 | Neuromuscular Diseases | 615340 | Neuromuscular Diseases Panel |
| KLHL41 | Neuromuscular Diseases | 607701 | Neuromuscular Diseases Panel |
| KMT2D | Kabuki syndrome | 602113 | CKD |
| KRAS/NRAS(FFPE) | Lung cancer, somatic Gastric cancer, somatic | 211980 137215 | Cancer HS Ion AmpliSeq Cancer Hotspot Panel V2 |
| KY | Neuromuscular Diseases | 605739 | Neuromuscular Diseases Panel |
| KYNU | Vertebral, cardiac, renal and limb defects syndrome | 605197 | CKD |
| LAGE3 | Galloway-Mowat syndrome | 300060 | CKD |
| LAMA2 | Muscular dystrophy, congenital, merosin deficient or partially deficient Muscular dystrophy, limb-girdle, autosomal recessive 23 | 607855 618138 | EPI Epilepsy Panel |
| LAMA2 | Neuromuscular Diseases | 156225 | Neuromuscular Diseases Panel |
| LAMA5 | Neuromuscular Diseases | 601033 | Neuromuscular Diseases Panel |
| LAMA5 | Nephrotic syndrome | 601033 | CKD |
| LAMB2 | Neuromuscular Diseases | 150325 | Neuromuscular Diseases Panel |
| LAMB2 | Nephrotic syndrome / Pierson syndrome | 150325 | CKD |
| LAMP2 | Danon disease | 300257 | LSD Lysosomal Storage Disorder |
| LAMP2 | Neuromuscular Diseases | 309060 | Neuromuscular Diseases Panel |
| 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 |
| LARGE1 | Neuromuscular Diseases | 603590 | Neuromuscular Diseases Panel |
| LCAT | Fish-eye disease; Norum disease | 606967 | FH |
| LCAT | Norum disease | 606967 | CKD |
| LDB3 | Neuromuscular Diseases | 605906 | Neuromuscular Diseases Panel |
| LDHA | Neuromuscular Diseases | 150000 | Neuromuscular Diseases Panel |
| LDLR | Hypercholesterolemia | 606945 | FH |
| LDLRAP1 | Hypercholesterolemia | 605747 | FH |
| LGI1 | Epilepsy, familial temporal lobe, 1 | 600512 | EPI Epilepsy Panel |
| LIFR | Stuve-Wiedemann syndrome/ Schwartz-Jampel syndrome | 151443 | CKD |
| LIMS2 | Neuromuscular Diseases | 607908 | Neuromuscular Diseases Panel |
| LIPA | Cholesteryl ester storage disease, Wolman disease | 613497 | LSD Lysosomal Storage Disorder/FH |
| LIPC | Hepatic lipase deficiency | 151670 | FH |
| LITAF | Charcot-Marie-Tooth disease, type 1C | 601098 | CMT Charcot-Marie-Tooth |
| LITAF | Neuromuscular Diseases | 603795 | Neuromuscular Diseases Panel |
| LMF1 | Lipase deficiency, combined | 611761 | FH |
| LMNA | Charcot-Marie-Tooth disease, type 2B1 | 605588 | CMT Charcot-Marie-Tooth |
| LMNA | Neuromuscular Diseases | 150330 | Neuromuscular Diseases Panel |
| LMOD3 | Neuromuscular Diseases | 616112 | Neuromuscular Diseases Panel |
| LMX1B | Focal segmental glomerulosclerosis | 602575 | CKD |
| LPIN1 | Neuromuscular Diseases | 605518 | Neuromuscular Diseases Panel |
| LPL | Lipoprotein lipase deficiency, Combined hyperlipidemia | 609708 | FH |
| LRIF1 | Neuromuscular Diseases | 615354 | Neuromuscular Diseases Panel |
| LRIG2 | Urofacial syndrome | 608869 | CKD |
| LRP12 | Neuromuscular Diseases | 618299 | Neuromuscular Diseases Panel |
| LRP2 | Donnai-Barrow syndrome | 600073 | CKD |
| LRP4 | Neuromuscular Diseases | 604270 | Neuromuscular Diseases Panel |
| LRP4 | Cenani-Lenz syndactyly syndrome | 604270 | CKD |
| LRSAM1 | CMT2P | 614436 | CMT Charcot-Marie-Tooth |
| LRSAM1 | Neuromuscular Diseases | 610933 | Neuromuscular Diseases Panel |
| LYST | Neuromuscular Diseases | 606897 | Neuromuscular Diseases Panel |
| LYZ | Hereditary amyloidosis | 153450 | CKD |
| LZTFL1 | Bardet-Biedl syndrome | 606568 | CKD |
| LZTR1 | Schwannomatosis-2, susceptibility to | 615670 | HCPHereditary Cancer Panels |
| MAFB | Multicentric carpotarsal osteolysis syndrome | 608968 | CKD |
| MAGED2 | Bartter syndrome | 300470 | CKD |
| MAGI2 | Nephrotic syndrome | 606382 | CKD |
| MAN2B1 | Mannosidosis, alpha-, types I and II | 248500 | LSD Lysosomal Storage Disorder |
| MANBA | Mannosidosis, beta | 248510 | LSD Lysosomal Storage Disorder |
| MAP3K20 | Neuromuscular Diseases | 609479 | Neuromuscular Diseases Panel |
| MAPKBP1 | Nephronophthisis | 616786 | CKD |
| MARS | CMT2U | 616280 | CMT Charcot-Marie-Tooth |
| MARS1 | Neuromuscular Diseases | 156560 | Neuromuscular Diseases Panel |
| MAX | Pheochromocytoma, susceptibility to | 171300 | HCPHereditary Cancer Panels |
| MB | Neuromuscular Diseases | 160000 | Neuromuscular Diseases Panel |
| 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 |
| MCM3AP | Neuromuscular Diseases | 603294 | Neuromuscular Diseases Panel |
| MCOLN1 | Mucolipidosis IV | 252650 | LSD Lysosomal Storage Disorder |
| MCOLN1 | Neuromuscular Diseases | 605248 | Neuromuscular Diseases Panel |
| 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 |
| MEGF10 | Neuromuscular Diseases | 612453 | Neuromuscular Diseases 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 |
| MEN1 | Multiple Endocrine Neoplasia | 613733 | CKD |
| 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 |
| MFN2 | Neuromuscular Diseases | 608507 | Neuromuscular Diseases Panel |
| 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 |
| MGME1 | Neuromuscular Diseases | 615076 | Neuromuscular Diseases Panel |
| MICU1 | Neuromuscular Diseases | 605084 | Neuromuscular Diseases Panel |
| MITF | Melanoma, cutaneous malignant, susceptibility to, 8 | 614456 | HCPHereditary Cancer Panels |
| MKKS | Bardet-Biedl syndrome/ McKusick-Kaufman syndrome | 604896 | CKD |
| MKS1 | Bardet-Biedel syndrome/ Joubert syndrome/ Meckel syndrome | 609883 | CKD |
| 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 |
| MLIP | Neuromuscular Diseases | 614106 | Neuromuscular Diseases Panel |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | 609831 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| MMACHC | Neuromuscular Diseases | 609831 | Neuromuscular Diseases Panel |
| MMACHC | Methylmalonic Aciduria and Homocysteinuria | 609831 | CKD |
| MMADHC | Candidate gene for atypical hemolytic uremic syndrome | 611935 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| MME | Charcot-Marie-Tooth disease, axonal, type 2T | 617017 | CMT Charcot-Marie-Tooth |
| MME | Neuromuscular Diseases | 120520 | Neuromuscular Diseases Panel |
| MMUT | Methylmalonic Aciduria | 609058 | CKD |
| MOCOS | Xanthinuria | 613274 | CKD |
| MOCS1 | Molybdenum cofactor deficiency A | 603707 | EPI Epilepsy Panel |
| MORC2 | Charcot-Marie-Tooth disease, axonal, type 2Z | 616688 | CMT Charcot-Marie-Tooth |
| MORC2 | Neuromuscular Diseases | 616661 | Neuromuscular Diseases Panel |
| MPDU1 | Neuromuscular Diseases | 604041 | Neuromuscular Diseases Panel |
| MPV17 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 137960 | MITO Mitochondrial Genome sequence panel |
| MPV17 | Neuromuscular Diseases | 137960 | Neuromuscular Diseases Panel |
| MPZ | Charcot-Marie-Tooth disease, dominant intermediate D, 1B, 2I, 2J Dejerine-Sottas disease Neuropathy, congenital | CMT Charcot-Marie-Tooth | |
| MPZ | Neuromuscular Diseases | 159440 | Neuromuscular Diseases Panel |
| 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 |
| MSTN | Neuromuscular Diseases | 601788 | Neuromuscular Diseases Panel |
| MSTO1 | Neuromuscular Diseases | 617619 | Neuromuscular Diseases Panel |
| MT-ATP6 | Leigh syndrome, NARP, Lactic Acidosis/ Seizures | 516060 | MITO Mitochondrial Genome sequence panel |
| MT-ATP6 | Neuromuscular Diseases | 516060 | Neuromuscular Diseases 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-CO1 | Neuromuscular Diseases | 516030 | Neuromuscular Diseases Panel |
| MT-CO2 | Myopathy, EXIT, Sensory Neural Hearing Loss, Encephalomyopathy, Lactic Acidosis | 516040 | MITO Mitochondrial Genome sequence panel |
| MT-CO2 | Neuromuscular Diseases | 516040 | Neuromuscular Diseases 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 |
| MTM1 | Neuromuscular Diseases | 300415 | Neuromuscular Diseases Panel |
| MTMR2 | CMT4B1 | 601382 | CMT Charcot-Marie-Tooth |
| MTMR2 | Neuromuscular Diseases | 603557 | Neuromuscular Diseases 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 | MITO Mitochondrial Genome sequence panel | |
| MTRFR | Neuromuscular Diseases | 613541 | Neuromuscular Diseases Panel |
| MT-RNR1 | DEAF, Deafness, Diabetes Mellitus | 561000 | MITO Mitochondrial Genome sequence panel |
| MT-RNR1 | Neuromuscular Diseases | 561000 | Neuromuscular Diseases 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-TF | Mitochondrial disease | 590070 | CKD |
| 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-TL1 | Neuromuscular Diseases | 590050 | Neuromuscular Diseases 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 |
| MTTP | Abetalipoproteinemia | 157147 | FH |
| MTTP | Neuromuscular Diseases | 157147 | Neuromuscular Diseases 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 |
| MTX2 | Mandibular dysplasia progeroid syndrome | 608555 | CKD |
| MUC1 | Tubulointerstitial kidney disease | 158340 | CKD |
| MUSK | Neuromuscular Diseases | 601296 | Neuromuscular Diseases Panel |
| MUTYH | Adenomas, multiple colorectal Gastric cancer, somatic | 608456 613659 | HCPHereditary Cancer Panels |
| MYBPC1 | Neuromuscular Diseases | 160794 | Neuromuscular Diseases Panel |
| MYBPC3 | Neuromuscular Diseases | 600958 | Neuromuscular Diseases Panel |
| MYH2 | Neuromuscular Diseases | 160740 | Neuromuscular Diseases Panel |
| MYH3 | Neuromuscular Diseases | 160720 | Neuromuscular Diseases Panel |
| MYH7 | Neuromuscular Diseases | 160760 | Neuromuscular Diseases Panel |
| MYH9 | Macrothrombocytopenia and granulocytes inclusions with or without nephritis or sensorineural hearing loss | 160775 | CKD |
| MYL1 | Neuromuscular Diseases | 160780 | Neuromuscular Diseases Panel |
| MYL2 | Neuromuscular Diseases | 160781 | Neuromuscular Diseases Panel |
| MYMK | Neuromuscular Diseases | 615345 | Neuromuscular Diseases Panel |
| MYO18B | Neuromuscular Diseases | 607295 | Neuromuscular Diseases Panel |
| MYO1E | Focal segmental glomerulosclerosis | 601479 | CKD |
| MYO9A | Neuromuscular Diseases | 604875 | Neuromuscular Diseases Panel |
| MYO9B | Neuromuscular Diseases | 602129 | Neuromuscular Diseases Panel |
| MYOCD | Congenital megabladder | 606127 | CKD |
| MYOT | Neuromuscular Diseases | 604103 | Neuromuscular Diseases Panel |
| MYPN | Neuromuscular Diseases | 608517 | Neuromuscular Diseases Panel |
| NADSYN1 | Vertebral, cardiac, renal and limb defects | 608285 | CKD |
| NAGA | Schindler disease | 609241, 609242 | LSD Lysosomal Storage Disorder |
| NAGA | Neuromuscular Diseases | 104170 | Neuromuscular Diseases Panel |
| NAGLU | Charcot-Marie-Tooth disease, axonal, type 2V | 616491 | CMT Charcot-Marie-Tooth |
| NAGLU | Mucopolysaccharidosis IIIB | 252920 | LSD Lysosomal Storage Disorder |
| NAGLU | Neuromuscular Diseases | 609701 | Neuromuscular Diseases Panel |
| NARS1 | Neuromuscular Diseases | 108410 | Neuromuscular Diseases Panel |
| NARS1 | Neuromuscular Diseases | 108410 | Neuromuscular Diseases Panel |
| 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 |
| NDRG1 | Neuromuscular Diseases | 605262 | Neuromuscular Diseases Panel |
| NDUFAF6 | Fanconi renotubular syndrome/ mitochondrial complex 1 deficiency | 612392 | CKD |
| NEB | Neuromuscular Diseases | 161650 | Neuromuscular Diseases Panel |
| NEFH | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | CMT Charcot-Marie-Tooth |
| NEFH | Neuromuscular Diseases | 162230 | Neuromuscular Diseases Panel |
| NEFL | Charcot-Marie-Tooth disease, type 1F, 2E | CMT Charcot-Marie-Tooth | |
| NEFL | Neuromuscular Diseases | 162280 | Neuromuscular Diseases Panel |
| NEK8 | Polycystic kidney disease/ Renal-hepatic-pancreatic dysplasia/ ?Nephronophthisis | 609799 | CKD |
| 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 |
| NFIA | Brain malformations with or without urinary tract defects | 600727 | CKD |
| NGF | Neuromuscular Diseases | 162030 | Neuromuscular Diseases Panel |
| NGLY1 | Congenital disorder of deglycosylation 1 | 615273 | EPI Epilepsy Panel |
| NHERF1 | Neuromuscular Diseases | 604990 | Neuromuscular Diseases Panel |
| NHLRC1 | Epilepsy, progressive myoclonic 2B (Lafora) | 608072 | EPI Epilepsy Panel |
| NIPBL | Cornelia de Lange syndrome | 608667 | CKD |
| NLRP3 | Muckle-Wells syndrome | 606416 | CKD |
| NMNAT2 | Neuromuscular Diseases | 608701 | Neuromuscular Diseases Panel |
| NOS1AP | Nephrotic Syndrome | 605551 | CKD |
| NOTCH2 | Alagille syndrome/ Hajdu-Cheney syndrome | 600275 | CKD |
| NOTCH2NLC | Neuromuscular Diseases | 618025 | Neuromuscular Diseases 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 |
| NPHP1 | Joubert syndrome/ Nephronophthisis, Senior-Loken syndrome | 607100 | CKD |
| NPHP3 | Meckel syndrome/ Nephronophthisis/ Renal-hepatic-pancreatic dysplasia | 608002 | CKD |
| NPHP4 | Nephronophthisis/ Senior Loken syndrome | 607215 | CKD |
| NPHS1 | Nephrotic syndrome | 602716 | CKD |
| NPHS2 | Nephrotic syndrome | 604766 | CKD |
| NPNT | Chronic kidney disease panels | 610306 | CKD |
| NPR1 | Chronic kidney disease panels | 108960 | CKD |
| NPRL2 | Epilepsy, familial focal, with variable foci 2 | 617116 | EPI Epilepsy Panel |
| NPRL3 | Epilepsy, familial focal, with variable foci 3 | 617118 | EPI Epilepsy Panel |
| NR3C1 | Glucocorticoid resistance | 138040 | CKD |
| NR3C2 | Pseudohypoaldosteronism, Hypertension | 600983 | CKD |
| NR6A1 | Oculovertebral syndrome | 602778 | CKD |
| NRIP1 | ?Congenital anomalies of kidney and urinary tract (CAKUT) | 602490 | CKD |
| NRXN1 | Pitt-Hopkins-like syndrome 2 | 600565 | EPI Epilepsy Panel |
| NTHL1 | Familial adenomatous polyposis 3 | 602656 | HCPHereditary Cancer Panels |
| NTRK1 | Neuromuscular Diseases | 191315 | Neuromuscular Diseases Panel |
| NUDT15 | Metabolism of thiopurines | 615792 | TPMT/NUDT15 Genotyping |
| NUP133 | Nephrotic syndrome | 607613 | CKD |
| NUP160 | ?Nephrotic syndrome | 607614 | CKD |
| NUP85 | Nephrotic syndrome | 170285 | CKD |
| NUP93 | Nephrotic syndrome | 614351 | CKD |
| OBSCN | Neuromuscular Diseases | 608616 | Neuromuscular Diseases Panel |
| OCLN | Pseudo-TORCH syndrome 1 | 251290 | EPI Epilepsy Panel |
| OCRL | Dent disease/ Lowe syndrome | 300535 | CKD |
| OFD1 | Joubert syndrome/ Orofacialdigital syndrome/ Simpson-Golabi-Behmel syndrome | 300170 | CKD |
| OPA1 | Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) | 605290 | MITO Mitochondrial Genome sequence panel |
| OPA1 | Neuromuscular Diseases | 605290 | Neuromuscular Diseases Panel |
| OPA3 | Neuromuscular Diseases | 606580 | Neuromuscular Diseases Panel |
| OPA3 (isoformA&B) | 3-methylglutaconic aciduria, type III, Optic atrophy 3 with cataract | 606580 | MITO Mitochondrial Genome sequence panel |
| ORAI1 | Neuromuscular Diseases | 610277 | Neuromuscular Diseases Panel |
| OSGEP | Galloway-Mowat syndrome | 610107 | CKD |
| OSMR | Amyloidosis | 601743 | CKD |
| OTC | Ornithine transcarbamylase deficiency | 311250 | UCD Urea Cycle Disorders |
| P3H2 | Myopia, high, with cataract and vitreoretinal degeneration | 610341 | CKD |
| PABPN1 | Neuromuscular Diseases | 602279 | Neuromuscular Diseases Panel |
| 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 |
| PAN2 | Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies | 617447 | CKD |
| PAX2 | Focal segmental glomerulosclerosis/ Papillorenal syndrome | 167409 | CKD |
| PAX7 | Neuromuscular Diseases | 167410 | Neuromuscular Diseases Panel |
| PBX1 | Congenital anomalies of kidney and urinary tract syndrome (CAKUT) with or without hearing loss, abnormal ears, or developmental delay | 176310 | CKD |
| PCBD1 | Hyperphenylalaninemia | 126090 | CKD |
| PCDH19 | Epileptic encephalopathy, early infantile, 9 | 300460 | EPI Epilepsy Panel |
| PCK2 | Neuromuscular Diseases | 614095 | Neuromuscular Diseases Panel |
| PCSK9 | Hypercholesterolemia | 607786 | FH |
| PDE3A | Hypertension and brachydactyly syndrome | 123805 | CKD |
| PDGFRA | Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial | 175510 | HCPHereditary Cancer Panels |
| PDHA1 | Neuromuscular Diseases | 300502 | Neuromuscular Diseases Panel |
| PDIA6 | Chronic kidney disease panels | 611099 | CKD |
| PDK3 | CMTX6 | 300905 | CMT Charcot-Marie-Tooth |
| PDK3 | Neuromuscular Diseases | 300906 | Neuromuscular Diseases Panel |
| PDSS1 | Neuromuscular Diseases | 607429 | Neuromuscular Diseases Panel |
| PDSS2 | Neuromuscular Diseases | 610564 | Neuromuscular Diseases Panel |
| PDSS2 | Coenzyme Q10 deficiency | 610564 | CKD |
| PDXK | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | 618511 | CMT Charcot-Marie-Tooth |
| PEX10 | Neuromuscular Diseases | 602859 | Neuromuscular Diseases Panel |
| PEX7 | Neuromuscular Diseases | 601757 | Neuromuscular Diseases Panel |
| PFKM | Neuromuscular Diseases | 610681 | Neuromuscular Diseases Panel |
| PGAM2 | Neuromuscular Diseases | 612931 | Neuromuscular Diseases Panel |
| PGK1 | Neuromuscular Diseases | 311800 | Neuromuscular Diseases Panel |
| PGM1 | Neuromuscular Diseases | 171900 | Neuromuscular Diseases Panel |
| PHEX | Hypophosphatemic rickets | 300550 | CKD |
| PHF6 | Borjeson-Forssman-Lehmann syndrome | 301900 | EPI Epilepsy Panel |
| PHGDH | Neu-Laxova syndrome 1/Phosphoglycerate dehydrogenase deficiency | 606879 | EPI Epilepsy Panel |
| PHKA1 | Neuromuscular Diseases | 311870 | Neuromuscular Diseases Panel |
| PHKB | Neuromuscular Diseases | 172490 | Neuromuscular Diseases Panel |
| PHYH | Neuromuscular Diseases | 602026 | Neuromuscular Diseases Panel |
| PIBF1 | Joubert syndrome | 607532 | CKD |
| PIEZO2 | Neuromuscular Diseases | 613629 | Neuromuscular Diseases Panel |
| PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 | EPI Epilepsy Panel |
| PIGG | Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy | 616917 | EPI Epilepsy Panel |
| PIGN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 | EPI Epilepsy Panel |
| PIGO | Hyperphosphatasia with impaired intellectual development syndrome 2 | 614749 | EPI Epilepsy Panel |
| PIGT | Multiple congenital anomalie-hypotonia-seizures syndrome 3 | 615398 | EPI Epilepsy Panel |
| PIGV | Hyperphosphatasia with impaired intellectual development syndrome 1 | 239300 | EPI Epilepsy Panel |
| PKD1 | Polycystic kidney disease | 601313 | CKD |
| PKD2 | Polycystic kidney disease | 173910 | CKD |
| PLCB1 | Epileptic encephalopathy, early infantile, 12 | 607120 | EPI Epilepsy Panel |
| PLCE1 | Nephrotic syndrome | 608414 | CKD |
| PLEC | Neuromuscular Diseases | 601282 | Neuromuscular Diseases Panel |
| PLEKHG5 | Charcot-Marie-Tooth disease, recessive intermediate C | 615376 | CMT Charcot-Marie-Tooth |
| PLEKHG5 | Neuromuscular Diseases | 611101 | Neuromuscular Diseases Panel |
| PLG | Dysplasminogenemia | 173350 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| PLPBP | Epilepsy, early-onset, vitamin B6-dependent | 617290 | EPI Epilepsy Panel |
| PLVAP | Chronic kidney disease panels | 607647 | CKD |
| PMM2 | Neuromuscular Diseases | 601785 | Neuromuscular Diseases Panel |
| PMM2 | Congenital disorders of glycosylation | 601785 | CKD |
| PMP2 | Charcot-Marie-Tooth disease, demyelinating, type 1G | 618279 | CMT Charcot-Marie-Tooth |
| PMP2 | Neuromuscular Diseases | 170715 | Neuromuscular Diseases Panel |
| PMP22 | Charcot-Marie-Tooth disease, type 1A, 1E Neuropathy, recurrent, with pressure palsies Dejerine-Sottas disease | CMT Charcot-Marie-Tooth | |
| PMP22 | Neuromuscular Diseases | 601097 | Neuromuscular Diseases Panel |
| PMPCA | Spinocerebellar ataxia | 613036 | CKD |
| 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 |
| PNKP | Neuromuscular Diseases | 605610 | Neuromuscular Diseases Panel |
| PNPLA2 | Neuromuscular Diseases | 609059 | Neuromuscular Diseases Panel |
| PNPLA8 | Neuromuscular Diseases | 612123 | Neuromuscular Diseases Panel |
| PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | 603287 | EPI Epilepsy Panel |
| PODXL | Chronic kidney disease panels | 602632 | CKD |
| POGLUT1 | Neuromuscular Diseases | 615618 | Neuromuscular Diseases 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 |
| POLG | Neuromuscular Diseases | 174763 | Neuromuscular Diseases Panel |
| POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 604983 | MITO Mitochondrial Genome sequence panel |
| POLG2 | Neuromuscular Diseases | 604983 | Neuromuscular Diseases Panel |
| POLR3A | Neuromuscular Diseases | 614258 | Neuromuscular Diseases Panel |
| POLR3B | Neuromuscular Diseases | 614366 | Neuromuscular Diseases Panel |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 | EPI Epilepsy Panel |
| POMGNT1 | Neuromuscular Diseases | 606822 | Neuromuscular Diseases 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 |
| POMGNT2 | Neuromuscular Diseases | 614828 | Neuromuscular Diseases Panel |
| POMK | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | 615249 | EPI Epilepsy Panel |
| POMK | Neuromuscular Diseases | 615247 | Neuromuscular Diseases Panel |
| POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 236670 | EPI Epilepsy Panel |
| POMT1 | Neuromuscular Diseases | 607423 | Neuromuscular Diseases Panel |
| POMT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | 613150 | EPI Epilepsy Panel |
| POMT2 | Neuromuscular Diseases | 607439 | Neuromuscular Diseases Panel |
| POPDC3 | Neuromuscular Diseases | 605824 | Neuromuscular Diseases Panel |
| POT1 | Glioma susceptibility 9 Melanoma, cutaneous malignant, susceptibility to, 10 | 616568 615848 | HCPHereditary Cancer Panels |
| PPOX | Neuromuscular Diseases | 600923 | Neuromuscular Diseases Panel |
| PPT1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 | EPI Epilepsy Panel |
| PPT1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 | LSD Lysosomal Storage Disorder |
| PRDM12 | Neuromuscular Diseases | 616458 | Neuromuscular Diseases Panel |
| PRDM15 | Chronic kidney disease panels | 617692 | CKD |
| PREPL | Neuromuscular Diseases | 609557 | Neuromuscular Diseases Panel |
| PRKAG2 | Neuromuscular Diseases | 602743 | Neuromuscular Diseases Panel |
| PRKAR1A | Carney complex, type 1 | 160980 | HCPHereditary Cancer Panels |
| PRKCSH | Polycystic liver disease | 177060 | CKD |
| PRNP | Neuromuscular Diseases | 176640 | Neuromuscular Diseases Panel |
| PRPS1 | CMTX5 | 311070 | CMT Charcot-Marie-Tooth |
| PRPS1 | Neuromuscular Diseases | 311850 | Neuromuscular Diseases Panel |
| 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 |
| PRX | Neuromuscular Diseases | 605725 | Neuromuscular Diseases Panel |
| 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 |
| PSKH1 | Cholestasis, progressive familial intrahepatic | 177015 | CKD |
| 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 |
| PTH | Hypoparathroidism | 168450 | CKD |
| PTH1R | Chronic kidney disorders panel | 168468 | CKD |
| PTPN11 | Neuromuscular Diseases | 176876 | Neuromuscular Diseases Panel |
| PTPRO | Nephrotic syndrome | 600579 | CKD |
| PTRH2 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | 616263 | CMT Charcot-Marie-Tooth |
| PURA | Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties | 616158 | EPI Epilepsy Panel |
| PURA | Neuromuscular Diseases | 600473 | Neuromuscular Diseases Panel |
| PUS1 | Neuromuscular Diseases | 608109 | Neuromuscular Diseases Panel |
| PYGM | Neuromuscular Diseases | 608455 | Neuromuscular Diseases Panel |
| PYROXD1 | Neuromuscular Diseases | 617220 | Neuromuscular Diseases Panel |
| 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 |
| RAB7A | Charcot-Marie-Tooth disease, type 2B | 600882 | CMT Charcot-Marie-Tooth |
| RAB7A | Neuromuscular Diseases | 602298 | Neuromuscular Diseases Panel |
| RAD51C | Breast-ovarian cancer, familial, susceptibility | 613399 | HCPHereditary Cancer Panels |
| RAD51D | Breast-ovarian cancer, familial, susceptibility | 614291 | HCPHereditary Cancer Panels |
| RAPSN | Neuromuscular Diseases | 601592 | Neuromuscular Diseases Panel |
| RB1 | Retinoblastoma | 180200 | HCPHereditary Cancer Panels |
| RBCK1 | Neuromuscular Diseases | 610924 | Neuromuscular Diseases Panel |
| RECQL | 600537 | HCPHereditary Cancer Panels | |
| REEP1 | Neuromuscular Diseases | 609139 | Neuromuscular Diseases Panel |
| RELN | Lissencephaly 2 (Norman-Roberts type) Epilepsy, familial temporal lobe, 7 | 257320 616436 | EPI Epilepsy Panel |
| REN | Renal tubular dysgenesis, tubulointerstitial kidney disease | 179820 | CKD |
| 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 | singlesingle | |
| RET | Multiple endocrine neoplasia | 164761 | CKD |
| RETREG1 | Neuromuscular Diseases | 613114 | Neuromuscular Diseases Panel |
| RFC1 | Neuromuscular Diseases | 102579 | Neuromuscular Diseases Panel |
| RILPL1 | Neuromuscular Diseases | 614092 | Neuromuscular Diseases Panel |
| RMND1 | Combined oxidative phosphorylation deficiency | 614917 | CKD |
| RNASEH1 | Neuromuscular Diseases | 604123 | Neuromuscular Diseases Panel |
| RNF43 | Sessile serrated polyposis cancer syndrome | 617108 | HCPHereditary Cancer Panels |
| ROBO1 | Neurooculorenal syndrome | 602430 | CKD |
| ROBO2 | Vesicoureteral reflux | 602431 | CKD |
| ROGDI | Kohlschutter-Tonz syndrome | 226750 | EPI Epilepsy Panel |
| ROR2 | Robinow syndrome | 602337 | CKD |
| RPGRIP1L | Joubert syndrome/ Meckel syndrome/ ?COACH syndrome | 610937 | CKD |
| RPH3A | Neuromuscular Diseases | 612159 | Neuromuscular Diseases Panel |
| RPS20 | 603682 | HCPHereditary Cancer Panels | |
| RRAGD | Hypomagnesemia, renal, with or without dilated cardimyopathy | 608268 | CKD |
| RRM2B | Mitochondrial DNA depletion syndrome 8A, 8B, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 604712 | MITO Mitochondrial Genome sequence panel |
| RRM2B | Neuromuscular Diseases | 604712 | Neuromuscular Diseases Panel |
| RRM2B | Mitochondrial disorder/ Rod-cone dystrophy, sensorineural deafness and Fanconi-type renal dysfunction | 604712 | CKD |
| RTTN | Microcephaly, short stature, and polymicrogyria with seizures | 614833 | EPI Epilepsy Panel |
| RXYLT1 | Neuromuscular Diseases | 605862 | Neuromuscular Diseases Panel |
| RYR1 | Neuromuscular Diseases | 180901 | Neuromuscular Diseases Panel |
| RYR3 | Neuromuscular Diseases | 180903 | Neuromuscular Diseases Panel |
| SACS | Neuromuscular Diseases | 604490 | Neuromuscular Diseases Panel |
| SALL1 | Townes-Brocks branchiotorenal syndrome | 602218 | CKD |
| SALL4 | Duane-radial ray syndrome | 607343 | CKD |
| SAR1B | Chylomicron retention disease | 607690 | FH |
| SARS2 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | 612804 | CKD |
| SBF1 | Charcot-Marie-Tooth disease, type 4B3 | 615284 | CMT Charcot-Marie-Tooth |
| SBF1 | Neuromuscular Diseases | 603560 | Neuromuscular Diseases Panel |
| SBF2 | CMT4B2 | 604563 | CMT Charcot-Marie-Tooth |
| SBF2 | Neuromuscular Diseases | 607697 | Neuromuscular Diseases Panel |
| SCARB1 | Candidate gene for dyslipidemia | 601040 | FH |
| SCARB2 | Epilepsy, progressive myoclonic 4, with or without renal failure | 602257 | EPI Epilepsy Panel |
| SCARB2 | Epilepsy, progressive myoclonic, with or without renal failure | 602257 | CKD |
| SCLT1 | Chronic kidney disease panels | 611399 | CKD |
| SCN10A | Neuromuscular Diseases | 604427 | Neuromuscular Diseases Panel |
| SCN11A | Neuromuscular Diseases | 604385 | Neuromuscular Diseases Panel |
| SCN1A | Dravet syndrome/Epilepsy, generalized, with febrile seizures plus, type 2/Febrile seizures, familial, 3A/Migraine, familial hemiplegic, 3 | 182389 | EPI Epilepsy Panel |
| SCN1B | Epilepsy, generalized, with febrile seizures plus, type 1/Atrial fibrillation, familial, 13/Brugada syndrome 5 | 600235 | EPI Epilepsy Panel |
| SCN2A | Epileptic encephalopathy, early infantile, 11/Seizures, benign familial infantile, 3 | 182390 | EPI Epilepsy Panel |
| SCN3A | Develpmental and epileptic encephalopathy 62; Epilepsy, familial focal, with variable foci 4 | 614749 617935 | EPI Epilepsy Panel |
| SCN4A | Hyperkalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 2 Paramyotonia congenital, Myotonia congenita, | 170500, 613345, 168300, 608390 | singlesingle |
| SCN4A | Neuromuscular Diseases | 603967 | Neuromuscular Diseases Panel |
| SCN4A | Chronic kidney disease panels | 603967 | CKD |
| SCN8A | Epileptic encephalopathy, early infantile, 13/Seizures, benign familial infantile, 5 | 600702 | EPI Epilepsy Panel |
| SCN9A | Neuromuscular Diseases | 603415 | Neuromuscular Diseases Panel |
| SCNN1A | Pseudohypoaldosteronism | 600228 | CKD |
| SCNN1B | Pseudohypoaldosteronism/ Liddle disease | 600760 | CKD |
| SCNN1G | Pseudohypoaldosteronism/ Liddle disease | 600761 | CKD |
| SCO2 | Mitochondrial complex IV deficiency, nuclear type 2 | 604377 | CMT Charcot-Marie-Tooth |
| SCO2 | Neuromuscular Diseases | 604272 | Neuromuscular Diseases Panel |
| SDCCAG8 | Bardet-Biedl syndrome/ Senior-Loken syndrome | 613524 | CKD |
| 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 |
| SEC61A1 | Tubulointerstitial kidney disease | 609213 | CKD |
| SEC63 | Polycystic liver disease | 608648 | CKD |
| SELENON | Neuromuscular Diseases | 606210 | Neuromuscular Diseases Panel |
| SELRC1 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 618387 | CMT Charcot-Marie-Tooth |
| SEPT9 | Amyotrophy, hereditary neuralgic | 162100 | CMT Charcot-Marie-Tooth |
| SEPTIN9 | Neuromuscular Diseases | 604061 | Neuromuscular Diseases Panel |
| SERPINI1 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | EPI Epilepsy Panel |
| SETX | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 606002 | CMT Charcot-Marie-Tooth |
| SETX | Neuromuscular Diseases | 608465 | Neuromuscular Diseases Panel |
| SGCA | Neuromuscular Diseases | 600119 | Neuromuscular Diseases Panel |
| SGCB | Neuromuscular Diseases | 600900 | Neuromuscular Diseases Panel |
| SGCD | Neuromuscular Diseases | 601411 | Neuromuscular Diseases Panel |
| SGCE | Dystonia-11, myoclonic | 159900 | EPI Epilepsy Panel |
| SGCG | Neuromuscular Diseases | 608896 | Neuromuscular Diseases Panel |
| SGPL1 | Nephrotic syndrome, type 14 | 617575 | CMT Charcot-Marie-Tooth |
| SGPL1 | Neuromuscular Diseases | 603729 | Neuromuscular Diseases Panel |
| SGPL1 | RENI syndrome | 603729 | CKD |
| SGSH | Mucopolysaccharidosis IIIA | 252900 | LSD Lysosomal Storage Disorder |
| SH3TC2 | Charcot-Marie-Tooth disease, type 4C | 601596 | CMT Charcot-Marie-Tooth |
| SH3TC2 | Neuromuscular Diseases | 608206 | Neuromuscular Diseases Panel |
| SHROOM4 | Chronic kidney disease panels | 300579 | CKD |
| SIGMAR1 | Spinal muscular atrophy, distal, autosomal recessive, 2 | 605726 | CMT Charcot-Marie-Tooth |
| SIGMAR1 | Neuromuscular Diseases | 601978 | Neuromuscular Diseases Panel |
| SIL1 | Neuromuscular Diseases | 608005 | Neuromuscular Diseases Panel |
| SLC12A1 | Bartter syndrome | 600839 | CKD |
| SLC12A3 | Neuromuscular Diseases | 600968 | Neuromuscular Diseases Panel |
| SLC12A3 | Gitelman syndrome | 600968 | CKD |
| SLC12A5 | Developmental and epileptic encephalopathy 34 | 616645 | EPI Epilepsy Panel |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy | 218000 | CMT Charcot-Marie-Tooth |
| SLC12A6 | Neuromuscular Diseases | 604878 | Neuromuscular Diseases Panel |
| SLC13A5 | Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta | 615905 | EPI Epilepsy Panel |
| SLC16A1 | Neuromuscular Diseases | 600682 | Neuromuscular Diseases Panel |
| SLC17A5 | Sialic acid storage disorder Salla disease | 269920 604369 | LSD Lysosomal Storage Disorder |
| SLC18A3 | Neuromuscular Diseases | 600336 | Neuromuscular Diseases Panel |
| SLC19A3 | Thiamine metabolism dysfunction syndrome 2 (biotin-or-thiamine-responsive encephalopathy type 2) | 607483 | EPI Epilepsy Panel |
| SLC20A1 | Chronic kidney disease panels | 137570 | CKD |
| SLC22A12 | Hypouricemia, renal | 607096 | CKD |
| SLC22A5 | Neuromuscular Diseases | 603377 | Neuromuscular Diseases Panel |
| SLC25A1 | Neuromuscular Diseases | 190315 | Neuromuscular Diseases 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 |
| SLC25A19 | Neuromuscular Diseases | 606521 | Neuromuscular Diseases Panel |
| SLC25A2 | Hyperornithinemia hyperammonemia homocitrullinuria (HHH) syndrome | 238970 | UCD Urea Cycle Disorders |
| SLC25A20 | Neuromuscular Diseases | 613698 | Neuromuscular Diseases Panel |
| SLC25A22 | Developmental and epileptic encephalopathy 3 | 609304 | EPI Epilepsy Panel |
| SLC25A3 | Neuromuscular Diseases | 600370 | Neuromuscular Diseases Panel |
| SLC25A32 | Neuromuscular Diseases | 138480 | Neuromuscular Diseases Panel |
| SLC25A32 | Neuromuscular Diseases | 138480 | Neuromuscular Diseases Panel |
| SLC25A4 | Neuromuscular Diseases | 103220 | Neuromuscular Diseases Panel |
| SLC25A4 | Mitochondrial DNA depletion syndrome 12A-AD, 12B-AR, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 103220 | MITO Mitochondrial Genome sequence panel |
| SLC25A4 | Neuromuscular Diseases | 103220 | Neuromuscular Diseases Panel |
| SLC25A42 | Neuromuscular Diseases | 610823 | Neuromuscular Diseases Panel |
| SLC25A46 | Neuromuscular Diseases | 610826 | Neuromuscular Diseases Panel |
| SLC2A1 | Dystonia 9/GLUT1 deficiency syndrome 1, infantile onset, severe/GLUT1 deficiency syndrome 2, childhood onset/Epilepsy, idiopathic generalized, susceptibility to, 12 | 138140 | EPI Epilepsy Panel |
| SLC2A2 | Fanconi-Bickel syndrome | 138160 | CKD |
| SLC2A9 | Hypouricemia, renal | 606142 | CKD |
| SLC34A1 | Hypercalcemia/ Nephrolithiasis | 182309 | CKD |
| SLC34A3 | Hypophosphatemic rickets with hypercalciuria | 609826 | CKD |
| SLC35A2 | Congenital disorder of glycosylation, type IIm | 300896 | EPI Epilepsy Panel |
| SLC3A1 | Cystinuria | 104614 | CKD |
| SLC4A1 | Distal renal tubular acidosis | 109270 | CKD |
| SLC4A4 | Proximal renal tubular acidosis-ocular anomaly syndrome | 603345 | CKD |
| SLC52A2 | Neuromuscular Diseases | 607882 | Neuromuscular Diseases Panel |
| SLC52A3 | Neuromuscular Diseases | 613350 | Neuromuscular Diseases Panel |
| SLC5A2 | Renal glucosuria | 182381 | CKD |
| SLC5A7 | Neuromuscular Diseases | 608761 | Neuromuscular Diseases Panel |
| SLC6A1 | Myoclonic-atonic epilepsy | 616421 | EPI Epilepsy Panel |
| SLC6A19 | Hartnup disorder | 608893 | CKD |
| SLC6A8 | Cerebral creatine deficiency syndrome 1 | 300036 | EPI Epilepsy Panel |
| SLC7A7 | Lysinuric protein intolerance | 222700 | UCD Urea Cycle Disorders |
| SLC7A7 | Lysinuric protein intolerance | 603593 | CKD |
| SLC7A9 | Cystinuria | 604144 | CKD |
| SLC9A3R1 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | 612287 | CMT Charcot-Marie-Tooth |
| SLC9A6 | Mental retardation, X-linked syndromic, Christianson type | 300231 | EPI Epilepsy Panel |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Polyposis, juvenile intestinal Pancreatic cancer, somatic | 175050 174900 260350 | HCPHereditary Cancer Panels |
| SMARCA2 | Nicolaides-Baraitser syndrome | 601358 | EPI Epilepsy Panel |
| SMARCA4 | Rhabdoid tumor predisposition syndrome 2 | 613325 | HCPHereditary Cancer Panels |
| SMARCAL1 | Schimke immunoosseous dysplasia | 606622 | CKD |
| SMARCB1 | Rhabdoid tumor predisposition syndrome 1 Schwannomatosis-1, susceptibility to | 609322 162091 | HCPHereditary Cancer Panels |
| SMARCE1 | Meningioma, familial, susceptibility to | 607174 | HCPHereditary Cancer Panels |
| SMCHD1 | Neuromuscular Diseases | 614982 | Neuromuscular Diseases Panel |
| SMN1 | Neuromuscular Diseases | 600354 | Neuromuscular Diseases Panel |
| SMPD1 | Niemann-Pick disease A/B | 222700, 607616 | LSD Lysosomal Storage Disorder |
| SNAP25 | Neuromuscular Diseases | 600322 | Neuromuscular Diseases Panel |
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | 609528 | EPI Epilepsy Panel |
| SON | ZTTK syndrome | 182465 | CKD |
| SORD | Sorbitol dehydrogenase deficiency with peripheral neuropathy | 618912 | CMT Charcot-Marie-Tooth |
| SORD | Neuromuscular Diseases | 182500 | Neuromuscular Diseases Panel |
| SOX10 | Neuromuscular Diseases | 602229 | Neuromuscular Diseases Panel |
| SPAST | Neuromuscular Diseases | 604277 | Neuromuscular Diseases Panel |
| SPEG | Neuromuscular Diseases | 615950 | Neuromuscular Diseases Panel |
| SPG11 | Charcot-Marie-Tooth disease, axonal, type 2X | 616668 | CMT Charcot-Marie-Tooth |
| SPG11 | Neuromuscular Diseases | 610844 | Neuromuscular Diseases Panel |
| SPG7 (isoform1&2) | Spastic paraplegia 7, autosomal recessive | 602783 | MITO Mitochondrial Genome sequence panel |
| SPTAN1 | Epileptic encephalopathy, early infantile, 5 | 182810 | EPI Epilepsy Panel |
| SPTBN4 | Neuromuscular Diseases | 606214 | Neuromuscular Diseases Panel |
| SPTLC1 | Neuropathy, hereditary sensory and autonomic, type IA | 162400 | single single CMT Charcot-Marie-Tooth |
| SPTLC1 | Neuromuscular Diseases | 605712 | Neuromuscular Diseases Panel |
| SPTLC2 | Neuromuscular Diseases | 605713 | Neuromuscular Diseases Panel |
| SRD5A3 | Congenital disorder of glycosylation, type Iq Kahrizi syndrome | 612379 612713 | EPI Epilepsy Panel |
| ST3GAL5 | Salt and pepper developmental regression | 609056 | EPI Epilepsy Panel |
| STAC3 | Neuromuscular Diseases | 615521 | Neuromuscular Diseases Panel |
| STAP1 | Candidate gene for dyslipidemia | 604298 | FH |
| STIM1 | Neuromuscular Diseases | 605921 | Neuromuscular Diseases Panel |
| STK11 | Melanoma, malignant, somatic, Pancreatic cancer Peutz-Jeghers syndrome | 260350 175200 | HCPHereditary Cancer Panels |
| STRA6 | Chronic kidney disease panels | 610745 | CKD |
| STRADA | Polyhydramnios, megalencephaly and symptomatic epilepsy | 608626 | CKD |
| STX16 | Pseudohypoparathyroidism | 603666 | CKD |
| 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 |
| SUCLA2 | Neuromuscular Diseases | 603921 | Neuromuscular Diseases 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 |
| SURF1 | Neuromuscular Diseases | 185620 | Neuromuscular Diseases Panel |
| SVIL | Neuromuscular Diseases | 604126 | Neuromuscular Diseases Panel |
| SYN1 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 300491 | EPI Epilepsy Panel |
| SYNE1 | Neuromuscular Diseases | 608441 | Neuromuscular Diseases Panel |
| SYNE2 | Neuromuscular Diseases | 608442 | Neuromuscular Diseases Panel |
| SYNGAP1 | Mental retardation, autosomal dominant 5 | 603384 | EPI Epilepsy Panel |
| SYNJ1 | Developmental and epileptic encephalopathy 53 | 617389 | EPI Epilepsy Panel |
| SYT2 | Neuromuscular Diseases | 600104 | Neuromuscular Diseases Panel |
| SZT2 | Developmental and epileptic encephalopathy 18 | 615476 | EPI Epilepsy Panel |
| TAFAZZIN | Neuromuscular Diseases | 300394 | Neuromuscular Diseases Panel |
| TANGO2 | Neuromuscular Diseases | 616830 | Neuromuscular Diseases Panel |
| TBC1D1 | Chronic Kidney Disease Panels | 609850 | CKD |
| TBC1D24 | Epileptic encephalopathy, early infantile, 16/Myoclonic epilepsy, infantile, familial/DOOR syndrome | 613577 | EPI Epilepsy Panel |
| TBC1D8B | Nephrotic syndrome | 301027 | CKD |
| TBCE | Kenny-Caffey syndrome | 604934 | CKD |
| TBX18 | Congenital anomalies of kidney and urinary tract (CAKUT) | 604613 | CKD |
| TBX6 | Spondylocostal dysostosis | 602427 | CKD |
| TCAP | Neuromuscular Diseases | 604488 | Neuromuscular Diseases Panel |
| TCF4 | Corneal dystrophy, Fuchs endothelial, 3/Pitt-Hopkins syndrome | 602272 | EPI Epilepsy Panel |
| TCTN1 | Joubert syndrome | 609863 | CKD |
| TCTN2 | Joubert syndrome | 613846 | CKD |
| TCTN3 | Joubert syndrome | 613847 | CKD |
| TFAP2A | Branchiooculofacial syndrome | 107580 | CKD |
| TFG | Hereditary motor and sensory neuropathy, Okinawa type | 604484 | CMT Charcot-Marie-Tooth |
| TFG | Neuromuscular Diseases | 602498 | Neuromuscular Diseases 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 |
| TK2 | Neuromuscular Diseases | 188250 | Neuromuscular Diseases Panel |
| TMEM107 | Meckel syndrome | 616183 | CKD |
| TMEM127 | Pheochromocytoma, susceptibility to | 171300 | HCPHereditary Cancer Panels |
| TMEM138 | Joubert syndrome | 614459 | CKD |
| TMEM216 | Joubert syndrome/ Meckel syndrome | 613277 | CKD |
| TMEM231 | Joubert syndrome/ Meckel syndrome | 614949 | CKD |
| TMEM237 | Joubert syndrome | 614423 | CKD |
| TMEM260 | Structural heart defects and renal anomalies syndrome | 617449 | CKD |
| TMEM43 | Neuromuscular Diseases | 612048 | Neuromuscular Diseases Panel |
| TMEM67 | Joubert syndrome/ Meckel syndrome/ Nephronophthisis | 609884 | CKD |
| TNNC2 | Neuromuscular Diseases | 191039 | Neuromuscular Diseases Panel |
| TNNI2 | Neuromuscular Diseases | 191043 | Neuromuscular Diseases Panel |
| TNNT1 | Neuromuscular Diseases | 191041 | Neuromuscular Diseases Panel |
| TNNT3 | Neuromuscular Diseases | 600692 | Neuromuscular Diseases Panel |
| TNPO3 | Neuromuscular Diseases | 610032 | Neuromuscular Diseases Panel |
| TNS2 | Chronic Kidney disease panels | 607717 | CKD |
| TOP2B | B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 126431 | CKD |
| TOR1AIP1 | Neuromuscular Diseases | 614512 | Neuromuscular Diseases Panel |
| TP53 (incl. 5'UTR) | Breast cancer Colorectal cancer Li-Fraumeni syndrome Pancreatic cancer | 114480 114500 151623 260350 | HCPHereditary Cancer Panels |
| TP53RK | Galloway-Mowat syndrome | 608679 | CKD |
| TPM2 | Neuromuscular Diseases | 190990 | Neuromuscular Diseases Panel |
| TPM3 | Neuromuscular Diseases | 191030 | Neuromuscular Diseases Panel |
| TPMT | Metabolism of thiopurines | 187680 | TPMT/NUDT15 Genotyping |
| TPP1 | Ceroid lipofuscinosis, neuronal, 2 | 204500 | EPI Epilepsy Panel |
| TPP1 | Ceroid lipofuscinosis, neuronal, | 607998 | LSD Lysosomal Storage Disorder |
| TPRKB | Galloway-Mowat syndrome | 608680 | CKD |
| TRAP1 | Chronic kidney disease panels | 606219 | CKD |
| TRAPPC11 | Neuromuscular Diseases | 614138 | Neuromuscular Diseases Panel |
| TRIM2 | Charcot-Marie-Tooth disease, type 2R | 615490 | CMT Charcot-Marie-Tooth |
| TRIM2 | Neuromuscular Diseases | 614141 | Neuromuscular Diseases Panel |
| TRIM32 | Neuromuscular Diseases | 602290 | Neuromuscular Diseases Panel |
| TRIM54 | Neuromuscular Diseases | 606474 | Neuromuscular Diseases Panel |
| TRIM63 | Neuromuscular Diseases | 606131 | Neuromuscular Diseases Panel |
| TRIM8 | Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 606125 | CKD |
| TRIP4 | Neuromuscular Diseases | 604501 | Neuromuscular Diseases Panel |
| TRMT5 | Neuromuscular Diseases | 611023 | Neuromuscular Diseases Panel |
| TRPA1 | Neuromuscular Diseases | 604775 | Neuromuscular Diseases Panel |
| TRPC6 | Focal segmental glomerulosclerosis | 603652 | CKD |
| TRPM3 | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 620224 | EPI Epilepsy Panel |
| TRPM6 | Hypomagnesemia | 607009 | CKD |
| TRPM7 | Chronic kidney disease panels | 605692 | CKD |
| TRPV4 | Hereditary motor and sensory neuropathy, type IIc | 606071 | CMT Charcot-Marie-Tooth |
| TRPV4 | Neuromuscular Diseases | 605427 | Neuromuscular Diseases Panel |
| TSC1 | Lymphangioleiomyomatosis/Tuberous sclerosis-1 | 605284 | EPI Epilepsy Panel |
| TSC1 | Tuberous sclerosis-1 | 191100 | HCPHereditary Cancer Panels |
| TSC1 | Tuberous sclerosis | 605284 | CKD |
| TSC2 | Lymphangioleiomyomatosis, somatic/Tuberous sclerosis-2 | 191092 | EPI Epilepsy Panel |
| TSC2 | Tuberous sclerosis-2 | 613254 | HCPHereditary Cancer Panels |
| TSC2 | Tuberous sclerosis | 191092 | CKD |
| TSEN2 | Chronic kidney disease panels | 608753 | CKD |
| TSFM | Neuromuscular Diseases | 604723 | Neuromuscular Diseases Panel |
| TTC21B | Nephronophthisis | 612014 | CKD |
| TTC8 | Bardet-Biedl syndrome | 608132 | CKD |
| TTN | Neuromuscular Diseases | 188840 | Neuromuscular Diseases Panel |
| TTPA | Neuromuscular Diseases | 600415 | Neuromuscular Diseases Panel |
| TTR | Amyloidosis, hereditary, transthyretin-related Carpal tunnel syndrome, familial | 105210 115430 | single single CMT Charcot-Marie-Tooth |
| TTR | Neuromuscular Diseases | 176300 | Neuromuscular Diseases Panel |
| TTR | Amyloidosis | 176300 | CKD |
| 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 |
| TUBB3 | Neuromuscular Diseases | 602661 | Neuromuscular Diseases Panel |
| TULP3 | Hepatorenocardiac degenerative fibrosis | 604730 | CKD |
| TWNK | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 606075 | MITO Mitochondrial Genome sequence panel |
| TXNDC15 | Meckel syndrome | 617778 | CKD |
| TYMP | Mitochondrial DNA depletion syndrome 1 | 131222 | MITO Mitochondrial Genome sequence panel |
| TYMP | Neuromuscular Diseases | 131222 | Neuromuscular Diseases Panel |
| UBA1 | Neuromuscular Diseases | 314370 | Neuromuscular Diseases Panel |
| UBA5 | Developmental and epileptic encephalopathy 44 | 617132 | EPI Epilepsy Panel |
| UBE3A | Angelman syndrome | 601623 | EPI Epilepsy Panel |
| UMOD | Tubulointerstitial kidney disease | 191845 | CKD |
| UNC13A | Neuromuscular Diseases | 609894 | Neuromuscular Diseases Panel |
| UNC45B | Neuromuscular Diseases | 611220 | Neuromuscular Diseases Panel |
| VAMP1 | Neuromuscular Diseases | 185880 | Neuromuscular Diseases Panel |
| VAPB | Neuromuscular Diseases | 605704 | Neuromuscular Diseases Panel |
| VCP | Charcot-Marie-Tooth disease, type 2Y | 616687 | CMT Charcot-Marie-Tooth |
| VCP | Neuromuscular Diseases | 601023 | Neuromuscular Diseases Panel |
| VDR | Vitamin D resistant Rickets | 601769 | CKD |
| VHL | Pheochromocytoma Renal cell carcinoma, somatic von Hippel-Lindau syndrome | 171300 144700 193300 | HCPHereditary Cancer Panels |
| VIPAS39 | Arthrogryposis, renal dysfunction and cholestasis | 613401 | CKD |
| VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | 224050 | EPI Epilepsy Panel |
| VMA21 | Neuromuscular Diseases | 300913 | Neuromuscular Diseases Panel |
| VPS13A | Neuromuscular Diseases | 605978 | Neuromuscular Diseases Panel |
| VPS33B | Arthrogryposis, renal dysfunction and cholestasis | 608552 | CKD |
| VRK1 | Pontocerebellar hypoplasia type 1A | 607596 | CMT Charcot-Marie-Tooth |
| VRK1 | Neuromuscular Diseases | 602168 | Neuromuscular Diseases Panel |
| VTN | Candidate gene for atypical hemolytic uremic syndrome | 193190 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| VWA1 | Neuromuscular Diseases | 611901 | Neuromuscular Diseases Panel |
| VWF | von Willebrand disease, type 1 / type 2A, 2B, 2M, 2N / type 3 | 613160 | AHUSAtypical Hemolytic Uremic Syndrome Panel |
| WARS | Neuronopathy, distal hereditary motor, type IX | 617721 | CMT Charcot-Marie-Tooth |
| WARS1 | Neuromuscular Diseases | 191050 | Neuromuscular Diseases Panel |
| WBP11 | Vertebral, cardiac, tracheoesophageal, renal and limb defects | 618083 | CKD |
| WDPCP | Bardet-Biedl syndrome | 613580 | CKD |
| WDR19 | Nephronophthisis/ Senior-Loken syndrome | 608151 | CKD |
| WDR35 | Cranioectodermal dysplasia | 613602 | CKD |
| WDR44 | Chronic Kidney disease panels | 301070 | CKD |
| WDR45 | Neurodegeneration with brain iron accumulation 5 | 300894 | EPI Epilepsy Panel |
| WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 604317 | EPI Epilepsy Panel |
| WDR72 | Chronic Kidney disease panels | 613214 | CKD |
| WDR73 | Galloway-Mowat syndrome | 616144 | CKD |
| WLS | Zaki syndrome | 611514 | CKD |
| WNK1 | Neuromuscular Diseases | 605232 | Neuromuscular Diseases Panel |
| WNK1 | Pseudohypoaldosteronism | 605232 | CKD |
| WNK4 | Pseudohypoaldosteronism | 601844 | CKD |
| WNT5A | Robinow syndrome | 164975 | CKD |
| WT1 | Denys-Drash syndrome/ Frasier syndrome/ Meacham syndrome/ Nephrotic syndrome/ Wilms tumour | 607102 | CKD |
| WWOX | Developmental and epileptic encephalopathy 28 | 616211 | EPI Epilepsy Panel |
| XDH | Xanthinuria | 607633 | CKD |
| XK | Neuromuscular Diseases | 314850 | Neuromuscular Diseases Panel |
| XPA | Neuromuscular Diseases | 611153 | Neuromuscular Diseases Panel |
| XPNPEP3 | Nephronophthisis-like nephropathy | 613553 | CKD |
| YARS | Charcot-Marie-Tooth disease, dominant intermediate C | 608323 | CMT Charcot-Marie-Tooth |
| YARS1 | Neuromuscular Diseases | 603623 | Neuromuscular Diseases Panel |
| YARS2 | Neuromuscular Diseases | 610957 | Neuromuscular Diseases Panel |
| YRDC | Galloway-Moway syndrome | 612276 | CKD |
| YWHAG | Developmental and epileptic encephalopathy 56 | 617665 | EPI Epilepsy Panel |
| ZEB2 | Mowat-Wilson syndrome | 605802 | EPI Epilepsy Panel |
| ZFHX2 | Neuromuscular Diseases | 617828 | Neuromuscular Diseases Panel |
| ZFYVE26 | Neuromuscular Diseases | 612012 | Neuromuscular Diseases Panel |
| ZIC3 | VACTERL association | 300265 | CKD |
| ZMYM2 | Neurodevelopmental -craniofacial syndrome with variable renal and cardiac abnormalities | 602221 | CKD |
| ZNF423 | Joubert syndrome/ Nephronophthisis | 604557 | CKD |
