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)