Missouri Department of Health & Senior Services Newborn Screening Services: A to Z
A B C D F G H I K L M N O P S T V X
A
- Adrenal
- Alpha thalassemia
- Amino Acid Disorders
- ARG
- Arginase deficiency
- Argininemia
- Argininosuccinase
- Argininosuccinate acidemia
- Argininosuccinate synthetase
- ASA
B
- Beta ketothiolase
- Beta Thalassemia
- BIOPT-BS, BIOPT-RG
- Biopterin
- Biosafety/Biosecurity Course
- Biotin
- Biotinidase
- Biotinidase Deficiency
- BKT
- Branched-chain ketoacid dehydrogenase
C
- CACT
- CAH
- Carnitine acylcarnitine translocase deficiency
- Carnitine palmitoyl transferase deficiency I, II
- Carnitine transport defect
- Carnitine uptake defect
- CBL A, CBL B, CBL C, CBL D
- CF
- CH
- CIT-I, CIT-II
- Citrin deficiency
- Citrullinemia type I, II
- Cobalamin A, B, C, D
- Congenital Adrenal Hyperplasia
- Congenital Hypothyroidism
- CPT-1a, CPT-II
- CUD
- Cystathionine beta synthase
- Cystic Fibrosis
D
F
G
- GA-1
- GA-II
- Galactose
- Galactosemia
- GALT
- Gamma
- Glutaric acidemia type I
- Glutaric acidemia type II
- Glutaryl-CoA dehydrogenase
H
- HCY
- Hemoglobin
- Hemoglobin Bart's
- Hemoglobin C, D, E, S
- Hemoglobin disorders
- Hemoglobin Lepore-Boston
- Hemoglobin O-Arab
- Hemoglobinopathies
- Hereditary persistence of fetal hemoglobin
- HMG
- Holocarboxylase synthetase
- Homocystinuria
- H-PHE
- Hydroxyphenylpyruvate dioxygenase
- Hypermethioninemia
- Hyperphenylalaninemia
- Hypothyroidism
I
- IBG
- Immunoreactive Trypsinogen
- IRT
- Isobutyryl-CoA dehydrogenase deficiency
- Isovaleric acidemia
- Isovaleryl-CoA dehydrogenase
- IVA
L
M
- MAL
- Malonic acidemia
- Malonyl-CoA decarboxylase
- Maple syrup urine disease
- MCAD
- MCD
- MCKAT
- Medium/Short chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
- Medium-chain acyl-CoA dehydrogenase deficiency
- Medium-chain ketoacyl-CoA thiolase deficiency
- MET
- Methylmalonic acidemia
- Methylmalonyl-CoA mutase
- Mitochondrial acetoacetyl-CoA thiolase
- MSCHAD
- MSUD
- Multiple acyl-CoA dehydrogenase deficiency
- Multiple carboxylase deficiency
- MUT
N
- Newborn Screening Collection Cards
- Newborn Screening Laboratory
- Newborn Screening List of Disorders
- Newborn Screening; Rules for Collection of the Samples
- NICU Guidelines for Newborn Screening
O
P
- Phenylalanine hydroxylase
- Phenylketonuria
- PKU
- Primary Congenital Hypothyroidism
- PROP
- Propionic acidemia
- Propionyl-CoA carboxylase
S
- Salt wasting CAH
- SCAD
- Short-chain acyl-CoA dehydrogenase deficiency
- Short-chain ketoacylthiolase
- Sickle cell disease
- Sickling disorders
T
- T4
- TFP
- Thalassemia
- Three-Hydrox 3-methylglutaryl-CoA lyase
- Three-Hydroxy 3-methylglutaric aciduria
- Three-MCC
- Three–MGA
- Three-Methylcrotonyl-CoA carboxylase deficiency
- Three-Methylglutaconic aciduria
- Thyroid
- Transferase
- Trifunctional protein deficiency
- TSH
- Two-M3HBA
- Two-MBG
- Two-Methyl-3-hydroxybutyric aciduria
- Two-Methylbutyryl-CoA dehydrogenase deficiency
- Type I hydratase deficiency
- TYR-1, TYR-II, TYR-III
- Tyrosine aminotransferase
- Tyrosinemia type I, II, III