İlk-Bakış screens for 193 childhood genetic conditions

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)