LIST OF DISEASES COVERED BY THIS TEST
| Disease Covered | Gene Tested |
|---|---|
| PSEUDOXANTHOMA ELASTICUM; PXE | ABCC6 |
| ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2 | ABCC6 |
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 | ABCC8 |
| DIABETES MELLITUS, PERMANENT NEONATAL, 3 | ABCC8 |
| HYPERTRICHOSIS-ACROMEGALOIDFACIAL APPEARANCE SYNDROME | ABCC9 |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ | ABCD4 |
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20 | ACAD9 |
| ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACADM |
| ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | ACADVL |
| ALPHA-METHYLACETOACETIC ACIDURIA | ACAT1 |
| TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 | ACVRL1 |
| OMENN SYNDROME | ADA |
| SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELLNEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | ADA |
| THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY | ADAMTS13 |
| GLYCOGEN STORAGE DISEASE III; GSD3 | AGL |
| MYASTHENIC SYNDROME, CONGENITAL, 8 | AGRN |
| HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | AHCY |
| RETICULAR DYSGENESIS | AK2 |
| EPILEPSY, PYRIDOXINE-DEPENDENT; EPD | ALDH7A1 |
| FRUCTOSE INTOLERANCE, HEREDITARY; HFI | ALDOB |
| MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15 | ALG14 |
| HYPOPHOSPHATASIA, INFANTILE | ALPL |
| HYPOPHOSPHATASIA, CHILDHOOD | ALPL |
| IMERSLUND-GRASBECK SYNDROME 2 | AMN |
| DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL | AQP2 |
| ARGININEMIA | ARG1 |
| IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA | ARPC1B |
| ARGININOSUCCINIC ACIDURIA | ASL |
| CITRULLINEMIA, CLASSIC | ASS1 |
| RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS | ATP6V0A4 |
| RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS | ATP6V1B1 |
| NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS | AVPR2 |
| DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED | AVPR2 |
| BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD | BCKDK |
| AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE | BLNK |
| MEDULLOBLASTOMA | BRCA2 |
| WILMS TUMOR 1 | BRCA2 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | BRCA2 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP J | BRIP1 |
| BIOTINIDASE DEFICIENCY | BTD |
| AGAMMAGLOBULINEMIA, X-LINKED | BTK |
| HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 | C3 |
| COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE | C3 |
| COMPLEMENT COMPONENT 5 DEFICIENCY | C5 |
| COMPLEMENT COMPONENT 6 DEFICIENCY | C6 |
| COMPLEMENT COMPONENT 7 DEFICIENCY | C7 |
| COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I | C8a |
| COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II | C8b |
| COMPLEMENT COMPONENT 9 DEFICIENCY | C9 |
| CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO; CA5AD |
CA5A |
| TIMOTHY SYNDROME; TS | CACNA1C |
| LONG QT SYNDROME 8; LQT8 | CACNA1C |
| PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA |
CACNA1D |
| HYPERPARATHYROIDISM, NEONATAL SEVERE | CASR |
| HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 | CASR |
| INTRINSIC FACTOR DEFICIENCY; IFD | CBLIF |
| HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY |
CBS |
| IMMUNODEFICIENCY 19 | CD3D |
| IMMUNODEFICIENCY 18 | CD3E |
| AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE | CD79A |
| AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE | CD79B |
| BECKWITH-WIEDEMANN SYNDROME; BWS | CDKN1C |
| INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES; IMAGE |
CDKN1C |
| SILVER-RUSSELL SYNDROME 4 | CDKN1C |
| HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 | CFB |
| COMPLEMENT FACTOR D DEFICIENCY | CFD |
| PROPERDIN DEFICIENCY, X-LINKED; CFPD | CFP |
| CYSTIC FIBROSIS | CFTR |
| MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC | CHAT |
| MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A |
CHRNA1 |
| MMYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B |
CHRNA1 |
| MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A |
CHRNB1 |
| MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C |
CHRNB1 |
| MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A |
CHRND |
| MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B |
CHRND |
| MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C |
CHRND |
| MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A |
CHRNE |
| MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C |
CHRNE |
| MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B |
CHRNE |
| OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2 | CLCN7 |
| OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4 | CLCN7 |
| HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT; HOD |
CLCN7 |
| MYASTHENIC SYNDROME, CONGENITAL, 19 | COL13A1 |
| MYASTHENIC SYNDROME, CONGENITAL, 5 | COLQ |
| COENZYME Q10 DEFICIENCY, PRIMARY, 1 | COQ2 |
| COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7 | COQ4 |
| COENZYME Q10 DEFICIENCY, PRIMARY, 6 | COQ6 |
| COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8 | COQ7 |
| COENZYME Q10 DEFICIENCY, PRIMARY, 4 | COQ8A |
| NEPHROTIC SYNDROME, TYPE 9 | COQ8B |
| COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5 | COQ9 |
| COPROPORPHYRIA, HEREDITARY | CPOX |
| CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO |
CPS1 |
| CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY | CPT1A |
| NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE | CSF3R |
| HEREDITARY NEUTROPHILIA | CSF3R |
| IMMUNODEFICIENCY 24 | CTPS1 |
| IMERSLUND-GRASBECK SYNDROME 1 | CUBN |
| WHIM SYNDROME | CXCR4 |
| GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4; CGD4 |
CYBA |
| IMMUNODEFICIENCY 34; IMD34 | CYBB |
| GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX | CYBB |
| ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE |
CYP11A1 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETAHYDROXYLASE DEFICIENCY | CYP11B1 |
| CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | CYP11B2 |
| CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | CYP11B2 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHAHYDROXYLASE DEFICIENCY | CYP17A1 |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY |
CYP21A2 |
| MAPLE SYRUP URINE DISEASE; MSUD | DBT |
| OMENN SYNDROME | DCLRE1C |
| AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY | DDC |
| DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE | DGAT1 |
| DYSKERATOSIS CONGENITA, X-LINKED | DKC1 |
| DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | DLD |
| MUSCULAR DYSTROPHY, BECKER TYPE | DMD |
| MUSCULAR DYSTROPHY, DUCHENNE TYPE | DMD |
| HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE |
DOCK8 |
| MYASTHENIC SYNDROME, CONGENITAL, 10 | DOK7 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J | DPAGT1 |
| MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 | DPAGT1 |
| CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; DCWHK |
DSP |
| ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 |
DSP |
| SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS | DSP |
| EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | DSP |
| KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2 | DSP |
| CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA |
DSP |
| SHWACHMAN-DIAMOND SYNDROME 2 | EFL1 |
| EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS |
EIF2AK3 |
| CYCLIC NEUTROPENIA | ELANE |
| NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1 |
ELANE |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F | ERCC4 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP Q | ERCC4 |
| MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD | ETFA |
| MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY | ETFB |
| MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY | ETFDH |
| ENCEPHALOPATHY, ETHYLMALONIC; EE | ETHE1 |
| FACTOR XIII, A SUBUNIT, DEFICIENCY OF | F13A1 |
| FACTOR XIII, B SUBUNIT, DEFICIENCY OF | F13B |
| THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 | F2 |
| PROTHROMBIN DEFICIENCY, CONGENITAL | F2 |
| HEMOPHILIA A | F8 |
| HEMOPHILIA B | F9 |
| TYROSINEMIA, TYPE I; TYRSN1 | FAH |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A | FANCA |
| VACTERL WITH HYDROCEPHALUS | FANCB |
| FANCONI ANEMIA, COMPLEMENTATION GROUP B | FANCB |
| FANCONI ANEMIA, COMPLEMENTATION GROUP C | FANCC |
| FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | FANCD2 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP E | FANCE |
| FANCONI ANEMIA, COMPLEMENTATION GROUP F | FANCF |
| FANCONI ANEMIA, COMPLEMENTATION GROUP G | FANCG |
| FANCONI ANEMIA, COMPLEMENTATION GROUP I | FANCI |
| FANCONI ANEMIA, COMPLEMENTATION GROUP L | FANCL |
| AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME | FAS |
| FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D | FBP1 |
| LEUKOCYTE ADHESION DEFICIENCY, TYPE III | FERMT3 |
| LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD |
FLAD1 |
| CONGENITAL ISOLATED HYPERINSULINISM | FOXA2 |
| COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS | |
| T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY |
FOXN1 |
| T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT |
FOXN1 |
| IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED |
FOXP3 |
| GLYCOGEN STORAGE DISEASE Ia; GSD1A | G6PC |
| NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE | G6PC3 |
| ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY |
G6PD |
| GLYCOGEN STORAGE DISEASE II; GSD2 | GAA |
| GALACTOSEMIA III; GALAC3 | GALE |
| GALACTOSEMIA II; GALAC2 | GALK1 |
| GALACTOSEMIA I | GALT |
| CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | GAMT |
| THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA |
GATA1 |
| ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES; XLANP |
GATA1 |
| BLACKFAN-DIAMOND ANEMIA | GATA1 |
| CONGENITAL ERYTHROPOIETIC PORPHYRIA | GATA1 |
| ATRIAL SEPTAL DEFECT 2; ASD2 | GATA4 |
| VENTRICULAR SEPTAL DEFECT 1; VSD1 | GATA4 |
| CONOTRUNCAL HEART MALFORMATIONS; CTHM | GATA6 |
| HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA |
GATA6 |
| ATRIAL SEPTAL DEFECT 9; ASD9 | GATA6 |
| GLUTARIC ACIDEMIA I; GA1 | GCDH |
| DYSTONIA, DOPA-RESPONSIVE; DRD | GCH1 |
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 | GCK |
| DIABETES MELLITUS, PERMANENT NEONATAL, 1 | GCK |
| MYASTHENIC SYNDROME, CONGENITAL, 12 | GFPT1 |
| DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH |
GLIS3 |
| HYPEREKPLEXIA 1 | GLRA1 |
| HYPEREKPLEXIA 2 | GLRB |
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 | GLUD1 |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82; EIEE82 | GOT2 |
| MUCOPOLYSACCHARIDOSIS, TYPE VII | GUSB |
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 | HADH |
| MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD | HADHA |
| LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | HADHA |
| MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY | HADHB |
| NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 |
HAX1 |
| ALPHA-THALASSEMIA | HBA1 |
| HEMOGLOBIN H DISEASE; HBH | HBA1 |
| ALPHA-THALASSEMIA | HBA2 |
| METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE | HCFC1 |
| SEPTOOPTIC DYSPLASIA | HESX1 |
| HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY |
HK1 |
| HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HLCS |
| 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY | HMGCL |
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 | HNF1A |
| HYPERINSULINISM DUE TO HNF1A DEFICIENCY | HNF1A |
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1 | HNF4A |
| FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4 |
HNF4A |
| HYPERINSULINISM DUE TO HNF4A DEFICIENCY | HNF4A |
| HAWKINSINURIA | HPD |
| TYROSINEMIA, TYPE III | HPD |
| ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETAHYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY | HSD3B2 |
| HURLER SYNDROME | IDUA |
| HURLER-SCHEIE SYNDROME | IDUA |
| SCHEIE SYNDROME | IDUA |
| AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE | IGHM |
| AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE | IGLL1 |
| INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE | IL10RA |
| INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE | IL10RB |
| IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD63 |
IL2RB |
| COMBINED IMMUNODEFICIENCY, X-LINKED | IL2RG |
| SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELLPOSITIVE |
IL7R |
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | INS |
| DIABETES MELLITUS, PERMANENT NEONATAL 4; PNDM4 | INS |
| IMMUNODEFICIENCY 67 | IRAK4 |
| LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD | ITGB2 |
| ISOVALERIC ACIDEMIA; IVA | IVD |
| SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELLNEGATIVE |
JAK3 |
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2 | KCNJ11 |
| DIABETES MELLITUS, TRANSIENT NEONATAL, 3 | KCNJ11 |
| DIABETES MELLITUS, PERMANENT NEONATAL 2; PNDM2 | KCNJ11 |
| HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE | KCNJ8 |
| LONG QT SYNDROME 1; LQT1 | KCNQ1 |
| JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 | KCNQ1 |
| SHORT QT SYNDROME 2; SQT2 | KCNQ1 |
| SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1 | KCNQ2 |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7 | KCNQ2 |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14 | KCNT1 |
| EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5 | KCNT1 |
| IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN |
LAMTOR2 |
| PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 | LHX3 |
| PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4 | LHX4 |
| LYSOSOMAL ACID LIPASE DEFICIENCY | LIPA |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; MAHCF |
LMBRD1 |
| SCLEROSTEOSIS 2; SOST2 | LRP4 |
| MYASTHENIC SYNDROME, CONGENITAL, 17; CMS17 | LRP4 |
| CHEDIAK-HIGASHI SYNDROME; CHS | LYST |
| FANCONI ANEMIA, COMPLEMENTATION GROUP V | MAD2L2 |
| GLUCOCORTICOID DEFICIENCY 1 | MC2R |
| 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D | MCCC1 |
| 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; MCC2D | MCCC2 |
| METHYLMALONIC ACIDURIA, cblA TYPE | MMAA |
| METHYLMALONIC ACIDURIA, cblB TYPE | MMAB |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC |
MMACHC |
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD |
MMACHC |
| METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY |
MMUT |
| MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA |
MOCS1 |
| GLUCOCORTICOID DEFICIENCY 2; GCCD2 | MRAP |
| HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG |
MTR |
| HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; HMAE |
MTRR |
| MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
MUSK |
| MEVALONIC ACIDURIA | MVK |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | MYH7 |
| MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB | MYH7 |
| MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA | MYH7 |
| CARDIOMYOPATHY, DILATED, 1S; CMD1S | MYH7 |
| MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC; CMS24 | MYO9A |
| BONE MARROW FAILURE SYNDROME 4 | MYSM1 |
| N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD | NAGS |
| NIJMEGEN BREAKAGE SYNDROME; NBS | NBN |
| GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1; CGD1 |
NCF1 |
| GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2; CGD2 |
NCF2 |
| GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3; CGD3 |
NCF4 |
| DIARRHEA 4, MALABSORPTIVE, CONGENITAL | NEUROG3 |
| SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION |
NHEJ1 |
| GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY |
NNT |
| NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 |
| NIEMANN-PICK DISEASE, TYPE C2 | NPC2 |
| PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | NR3C2 |
| 46,XY SEX REVERSAL 3; SRXY3 | NR5A1 |
| 46,XX SEX REVERSAL 4; SRXX4 | NR5A1 |
| ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO |
OTC |
| SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY | OXCT1 |
| PHENYLKETONURIA; PKU | PAH |
| HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D | PCBD1 |
| PROPIONIC ACIDEMIA | PCCA |
| COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2 | PDSS1 |
| COENZYME Q10 DEFICIENCY, PRIMARY, 3 | PDSS2 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It | PGM1 |
| IMMUNODEFICIENCY 23 | PGM3 |
| HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT | PHEX |
| PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD | PHGDH |
| SHORT SYNDROME | PIK3R1 |
| AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE | PIK3R1 |
| IMMUNODEFICIENCY 36 | PIK3R1 |
| PYRUVATE KINASE DEFICIENCY OF RED CELLS | PKLR |
| EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D | PLPBP |
| PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD |
PNPO |
| ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1 |
POR |
| PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 | POU1F1 |
| MYASTHENIC SYNDROME, CONGENITAL, 22 | PREPL |
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 | PRF1 |
| IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES |
PRKDC |
| PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2 | PROP1 |
| CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA |
PRRT2 |
| SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 | PRRT2 |
| FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE | PRRT2 |
| PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD | PSAT1 |
| PHOSPHOSERINE PHOSPHATASE DEFICIENCY | PSPH |
| PANCREATIC AGENESIS 2; PAGEN2 | PTF1A |
| HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A | PTS |
| HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C | QDPR |
| GRISCELLI SYNDROME, TYPE 2 | RAB27A |
| COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS |
RAG1 |
| OMENN SYNDROME | RAG1 |
| ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY |
RAG1 |
| COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS |
RAG2 |
| OMENN SYNDROME | RAG2 |
| MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
RAPSN |
| FANCONI ANEMIA, COMPLEMENTATION GROUP W | RFWD3 |
| BARE LYMPHOCYTE SYNDROME, TYPE II | RFXANK |
| METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH | RMRP |
| ANAUXETIC DYSPLASIA 1; ANXD1 | RMRP |
| DIAMOND-BLACKFAN ANEMIA 7 | RPL11 |
| DIAMOND-BLACKFAN ANEMIA 12 | RPL15 |
| DIAMOND-BLACKFAN ANEMIA 18 | RPL18 |
| DIAMOND-BLACKFAN ANEMIA 11 | RPL26 |
| DIAMOND-BLACKFAN ANEMIA 16 | RPL27 |
| DIAMOND-BLACKFAN ANEMIA 19 | RPL35 |
| DIAMOND-BLACKFAN ANEMIA 5 | RPL35A |
| DIAMOND-BLACKFAN ANEMIA 6 | RPL5 |
| DIAMOND-BLACKFAN ANEMIA 9 | RPS10 |
| DIAMOND-BLACKFAN ANEMIA 20 | RPS15A |
| DIAMOND-BLACKFAN ANEMIA 4 | RPS17 |
| DIAMOND-BLACKFAN ANEMIA 1 | RPS19 |
| DIAMOND-BLACKFAN ANEMIA 3 | RPS24 |
| DIAMOND-BLACKFAN ANEMIA 10 | RPS26 |
| DIAMOND-BLACKFAN ANEMIA 17 | RPS27 |
| DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS |
RPS28 |
| DIAMOND-BLACKFAN ANEMIA 13 | RPS29 |
| DIAMOND-BLACKFAN ANEMIA 8 | RPS7 |
| MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | RYR1 |
| SHWACHMAN-DIAMOND SYNDROME 1 | SBDS |
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2 |
SCN1A |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6 | SCN1A |
| MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3 | SCN1A |
| SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 | SCN2A |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11 | SCN2A |
| EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4 | SCN3A |
| PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC | SCN4A |
| HYPERKALEMIC PERIODIC PARALYSIS; HYPP | SCN4A |
| MYOTONIA, POTASSIUM-AGGRAVATED | SCN4A |
| HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2 | SCN4A |
| MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 | SCN4A |
| PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A | SCN5A |
| BRUGADA SYNDROME 1; BRGDA1 | SCN5A |
| CARDIOMYOPATHY, DILATED, 1E; CMD1E | SCN5A |
| VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1 | SCN5A |
| LONG QT SYNDROME 3; LQT3 | SCN5A |
| SICK SINUS SYNDROME 1; SSS1 | SCN5A |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13 | SCN8A |
| SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 | SCN8A |
| PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE | SCNN1A |
| BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 |
SCNN1A |
| LIDDLE SYNDROME 3 | SCNN1A |
| LIDDLE SYNDROME 1 | SCNN1B |
| BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 |
SCNN1B |
| PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE | SCNN1B |
| PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE | SCNN1G |
| BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 |
SCNN1G |
| LIDDLE SYNDROME 2 | SNAP25 |
| LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | SH2D1A |
| SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL | SI |
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | SLC16A1 |
| PARKINSONISM-DYSTONIA, INFANTILE, 2; PKDYS2 | SLC18A2 |
| MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21 | SLC18A3 |
| THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2 |
SLC19A3 |
| CARNITINE DEFICIENCY, SYSTEMIC PRIMARY | SLC22A5 |
| COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD | SLC25A1 |
| MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23 | SLC25A1 |
| CITRULLINEMIA, TYPE II, NEONATAL-ONSET | SLC25A13 |
| HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME |
SLC25A15 |
| CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD | SLC25A20 |
| GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 | SLC2A1 |
| GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 | SLC2A1 |
| EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12 |
SLC2A1 |
| GLYCOGEN STORAGE DISEASE Ib; GSD1B | SLC37A4 |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | SLC39A8 |
| FOLATE MALABSORPTION, HEREDITARY | SLC46A1 |
| BROWN-VIALETTO-VAN LAERE SYNDROME 2 | SLC52A2 |
| FAZIO-LONDE DISEASE | SLC52A3 |
| BROWN-VIALETTO-VAN LAERE SYNDROME 1 | SLC52A3 |
| GLUCOSE/GALACTOSE MALABSORPTION; GGM | SLC5A1 |
| HYPEREKPLEXIA 3; HKPX3 | SLC6A5 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP P | SLX4 |
| SPINAL MUSCULAR ATROPHY, TYPE I | SMN1 |
| SPINAL MUSCULAR ATROPHY, TYPE III | SMN1 |
| SPINAL MUSCULAR ATROPHY, TYPE II | SMN1 |
| MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18 | SNAP25 |
| NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 |
SRP54 |
| LIPOID CONGENITAL ADRENAL HYPERPLASIA | STAR |
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | STX11 |
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | STXBP2 |
| TYROSINEMIA, TYPE II | TAT |
| BARTH SYNDROME; BTHS | TAZ |
| ACTH DEFICIENCY, ISOLATED | TBX19 |
| AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT | TCF3 |
| TRANSCOBALAMIN II DEFICIENCY | TCN2 |
| SEGAWA SYNDROME, AUTOSOMAL RECESSIVE | TH |
| FAMILIAL EXPANSILE OSTEOLYSIS; FEO | TNFRSF11A |
| PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2 | TNFRSF11A |
| OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | TNFRSF11A |
| TUBEROUS SCLEROSIS 1; TSC1 | TSC1 |
| FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2 | TSC1 |
| FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2 | TSC2 |
| TUBEROUS SCLEROSIS 2; TSC2 | TSC2 |
| DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS |
TSR2 |
| GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME |
TTC7A |
| FANCONI ANEMIA, COMPLEMENTATION GROUP T | UBE2T |
| HYPERINSULINISM DUE TO UCP2 DEFICIENCY | UCP2 |
| HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 | UNC13D |
| MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC | VAMP1 |
| NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE | VPS45 |
| NEUTROPENIA, SEVERE CONGENITAL, X-LINKED | WAS |
| WISKOTT-ALDRICH SYNDROME | WAS |
| THROMBOCYTOPENIA 1 | WAS |
| LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 | XIAP |
