RECOMMENDED NEWBORN SCREENING TESTS
New Hampshire screens for the following 28 conditions recommended by the American College of Medical Genetics and endorsed by the March of Dimes and the American Academy of Pediatrics.
Organic Acid Metabolism Disorders:
IVA (Isovaleric academia)
GA-I (Glutaric acidemia type I)
HMG (Hydroxymethyl-glutaric aciduria)
MCD (Multiple carboxylase deficiency)
MUT (Methylmalonic academia, mutase deficiency form)
3MCC (3-Methylcrotonyl-CoA carboxylase deficiency)
Cbl A,B (Methylmalonic academia, Cbl A and Cbl B forms)
PROP (Propionic academia)
BKT (Beta-ketothiolase deficiency)
Fatty Acid Oxidation Disorders:
MCAD (Medium-chain acyl-CoA dehydrogenase deficiency)
VLCAD (Very-long-chain acyl-CoA dehydrogenase defiency)
LCHAD (Long-chain hydroxyacyl-CoA dehydrogenase deficiency)
TFP (Trifunctional protein deficiency)
CUD (Carnitine uptake defect)
Amino Acid Metabolism Disorders:
PKU (Phenylketonuria)
MSUD (Maple syrup urine disease)
HCY (Homocystinuria)
CIT (Citrullinemia)
ASA (Argininosuccinic acidemia)
Hemoglobinopathies (Hemoglobin Disorders):
Hb SS (Sickle cell anemia)
Hb S/TH (Hb S/Beta-thalassemia)
Hb S/C (Hb S/C disease)
Others:
CH (Congenital hypothyroidism)
BIOT (Biotinidase deficiency)
CAH (Congenital adrenal hyperplasia)
GALT (Galactosemia)
HEAR (Hearing deficiency)
CF (Cystic fibrosis)
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