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List of All Diseases Genopix Health Kits Screen for

1-9

  • 3-beta-hydroxysteroid dehydrogenase type II deficiency (HSD3B2)
  • 3-methylcrotonyl-CoA carboxylase deficiency (MCCC1-related) (MCCC1)
  • 3-methylcrotonyl-CoA carboxylase deficiency (MCCC2-related) (MCCC2)
  • 3-phosphoglycerate dehydrogenase deficiency (PHGDH)
  • 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS)

A

  • Abetalipoproteinemia (MTTP)
  • Acrodermatitis enteropathica (SLC39A4)
  • Acute infantile liver failure (TRMU)
  • Adenosine deaminase deficiency (ADA)
  • Adrenoleukodystrophy, X-linked (ABCD1)
  • Alagille syndrome 1 / Tetralogy of Fallot (JAG1)
  • Alpha-thalassemia (HBA1/HBA2)
  • Alport syndrome (COL4A3-related) (COL4A3)
  • Alport syndrome (COL4A4-related) (COL4A4)
  • Alport syndrome (COL4A5-related) (COL4A5)
  • Argininemia (ARG1)
  • Argininosuccinic aciduria (ASL)
  • Ataxia with isolated vitamin E deficiency (TTPA)

B

  • Barth syndrome (TAZ)
  • Beta-globin-related hemoglobinopathies (HBB)
  • Beta-ketothiolase deficiency (ACAT1)
  • BH4-deficient hyperphenylalaninemia C (QDPR)
  • BH4-deficient hyperphenylalaninemia D (PCBD1)
  • Biotinidase deficiency (BTD)

C

  • Carbamoylphosphate synthetase I deficiency (CPS1)
  • Carnitine acylcarnitine translocase deficiency (SLC25A20)
  • Carnitine palmitoyltransferase IA deficiency (CPT1A)
  • Carnitine palmitoyltransferase II deficiency (CPT2)
  • Central hypothyroidism and testicular enlargement (IGSF1)
  • Cerebral creatine deficiency syndrome 2 (GAMT)
  • Cerebral creatine deficiency syndrome 3 (GATM)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Chronic granulomatous disease (CYBA-related) (CYBA)
  • Chronic granulomatous disease (CYBB-related) (CYBB)
  • Citrin deficiency (SLC25A13)
  • Citrullinemia, type 1 (ASS1)
  • Combined pituitary hormone deficiency 1 (POU1F1)
  • Combined pituitary hormone deficiency 2 (PROP1)
  • Combined pituitary hormone deficiency 3 (LHX3)
  • Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1)
  • Congenital amegakaryocytic thrombocytopenia (MPL)
  • Congenital bile acid synthesis defect (AKR1D1-related) (AKR1D1)
  • Congenital bile acid synthesis defect (HSD3B7-related) (HSD3B7)
  • Congenital disorder of glycosylation, type Ib (MPI)
  • Congenital hypothyroidism due to thyroid dysgenesis or hypoplasia (PAX8)
  • Congenital neutropenia (HAX1-related) (HAX1)
  • Congenital nongoitrous hypothryoidism 1 / Nonautoimmune hyperthyroidism (TSHR)
  • Congenital nongoitrous hypothryoidism 4 (TSHB)
  • Congenital nongoitrous hypothryoidism 6 (THRA)
  • Corticosterone methyloxidase deficiency (CYP11B2)
  • Crigler-Najjar syndrome, types 1 and 2 / Gilbert syndrome (UGT1A1)
  • Cystic fibrosis (CTFR)
  • Cystinosis (CTNS)

D

  • Distal renal tubular acidosis and other SLC4A1-related disorders (SLC4A1)
  • Dopa-responsive dystonia / BH4-deficient hyperphenylalaninemia B (GCH1)

E

  • Early infantile epileptic encephalopathy 11 / Benign familial infantile seizures 3 (SCN2A)
  • Early infantile epileptic encephalopathy 13 / Benign familial infantile seizures 5 (SCN8A)
  • Early Infantile epileptic encephalopathy 7 / Benign neonatal seizures 1 (KCNQ2)
  • Ethylmalonic encephalopathy (ETHE1)

F

  • Fabry disease (GLA)
  • Factor IX deficiency (F9)
  • Familial hypercholesterolemia (LDLR)
  • Familial hyperinsulinemic hypoglycemia 4 / 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)
  • Familial hyperinsulinism (ABCC8-related) (ABCC8)
  • Familial hyperinsulinism (KCNJ11-related) (KCNJ11)
  • Familial infantile convulsions with paroxysmal choreoathetosis (PRRT2)
  • Fructose-1,6-bisphosphatase deficiency (FBP1)

G

  • Galactokinase deficiency (GALK1)
  • Galactose epimerase deficiency (GALE)
  • Galactosemia (GALT)
  • Generalized thyrotropin-releasing hormone resistance (TRHR)
  • Glucose transporter 1 deficiency syndrome and other SLC2A1-related disorders (SLC2A1)
  • Glutaric acidemia, type I (GCDH)
  • Glutaric acidemia, type IIa (ETFA)
  • Glutaric acidemia, type IIb (ETFB)
  • Glutaric acidemia, type IIc (ETFDH)
  • Glutathione synthetase deficiency (GSS)
  • Glycogen storage disease, type 0 (GYS2)
  • Glycogen storage disease, type Ia (G6PC)
  • Glycogen storage disease, type II (GAA)
  • Glycogen storage disease, type III (AGL)
  • Glycogen storage disease, type IXb (PHKB)
  • Glycogen storage disease, type VI (PYGL)

H

  • Hemolytic anemia (G6PD-related) (G6PD)
  • Hereditary fructose intolerance (ALDOB)
  • HMG-CoA lyase deficiency (HMGCL)
  • HMG-CoA synthase 2 deficiency (HMGCS2)
  • Holocarboxylase synthetase deficiency (HLCS)
  • Homocystinuria (CBS-related) (CBS)
  • Homocystinuria-megaloblastic anemia, cobalamin G type (MTR)
  • Homocystinuria, cobalamin E type (MTRR)
  • Hyperinsulinism-hyperammonemia syndrome (GLUD1)
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (SLC25A15)
  • Hypophosphatasia (ALPL)

I

  • Immunodeficiency 18 (CD3E)
  • Immunodeficiency 19 (CD3D)
  • Isovaleric acidemia (IVD)

L

  • Lipoamide dehydrogenase deficiency (DLD)
  • Lipoid adrenal hyperplasia (STAR)
  • Lipoprotein lipase deficiency (LPL)
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA)
  • Lysinuric protein intolerance (SLC7A7)

M

  • Malonyl-CoA decarboxylase deficiency (MLYCD)
  • Maple syrup urine disease, type 1a (BCKDHA)
  • Maple syrup urine disease, type 1b (BCKDHB)
  • Maple syrup urine disease, type 2 (DBT)
  • Marfan syndrome and other FBN1-related disorders (FBN1)
  • Medium chain acyl-CoA dehydrogenase deficiency (ACADM)
  • Metachromatic leukodystrophy (ARSA)
  • Methionine adenosyltransferase I/III deficiency (MAT1A)
  • Methylmalonic acidemia (MMAA-related) (MMAA)
  • Methylmalonic acidemia (MMAB-related) (MMAB)
  • Methylmalonic acidemia (MUT-related) (MUT)
  • Methylmalonic aciduria and homocystinuria, cobalamin C type (MMACHC)
  • Methylmalonic aciduria and homocystinuria, cobalamin D type (MMADHC)
  • Methylmalonic aciduria and homocystinuria, cobalamin F type (LMBRD1)
  • Methylmalonyl-CoA epimerase deficiency (MCEE)
  • Mitochondrial trifunctional protein deficiency (HADHB-related) (HADHB)
  • Mucopolysaccharidosis type I (IDUA)
  • Mucopolysaccharidosis type II (IDS)
  • Mucopolysaccharidosis type IVA (GALNS)
  • Mucopolysaccharidosis type VI (ARSB)

N

  • N-acetylglutamate synthase deficiency (NAGS)
  • Neonatal hyperparathyroidism / Autosomal dominant hypocalcemia (CASR)
  • Nephrogenic diabetes insipidus, type II (AQP2)
  • Nephrogenic syndrome of inappropriate antidiuresis / Nephrogenic diabetes insipidus (AVPR2-related) (AVPR2)
  • Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
  • Niemann-Pick disease (SMPD1-related) (SMPD1)

O

  • Omenn syndrome (RAG2-related) (RAG2)
  • Omenn syndrome / Severe combined immunodeficiency, Athabaskan-type (DCLRE1C)
  • Omenn syndrome and other RAG1-related disorders (RAG1)
  • Ornithine aminotransferase deficiency (OAT)
  • Ornithine transcarbomylase deficiency (OTC)
  • Osteopetrosis 1 (TCIRG1)

P

  • Permanent neonatal diabetes mellitus (INS-related) (INS)
  • Phenylalanine hydroxylase deficiency (PAH)
  • Primary carnitine deficiency (SLC22A5)
  • Primary hyperoxaluria, type 1 (AGXT)
  • Primary hyperoxaluria, type 2 (GRHPR)
  • Primary hyperoxaluria, type 3 (HOGA1)
  • Propionic acidemia (PCCA-related) (PCCA)
  • Propionic acidemia (PCCB-related) (PCCB)
  • Pyridoxamine 5′-phosphate oxidase deficiency (PNPO)
  • Pyridoxine-dependent epilepsy (ALDH7A1)

R

  • Retinoblastoma (RB1)

S

  • Segawa syndrome (TH)
  • Sepiapterin reductase deficiency (SPR)
  • Severe combined immunodeficiency (IL7R-related) (IL7R)
  • Severe combined immunodeficiency (JAK3-related) (JAK3)
  • Severe combined immunodeficiency (PTPRC-related) (PTPRC)
  • Spherocytosis, type 1 (ANK1)
  • Spherocytosis, type 5 (EPB42)
  • Spinal muscular atrophy (SMN1)

T

  • Thyroid dyshormonogenesis 1 (SLC5A5)
  • Thyroid dyshormonogenesis 2A (TPO)
  • Thyroid dyshormonogenesis 3 (TG)
  • Thyroid dyshormonogenesis 4 (IYD)
  • Thyroid dyshormonogenesis 5 (DUOXA2)
  • Thyroid dyshormonogenesis 6 (DUOX2)
  • Tyrosinemia, type I (FAH)
  • Tyrosinemia, type II (TAT)
  • Tyrosinemia, type III (HPD)

V

  • Very long chain acyl-CoA dehydrogenase deficiency (ACADVL)

W

  • Wilms tumor, type 1 and other WT1-related disorders (WT1)
  • Wolman disease / Cholesteryl ester storage disease (LIPA)

X

  • X-linked severe combined immunodeficiency (IL2RG)

 

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