Genetic, Endocrine and Metabolic Testing

Reference List of Conditions

The Human Genetics Division at Cincinnati Children's Hospital Medical Center provides this reference list of condition screened for in the Ohio Newborn Screening Program.

M= Mandated in Ohio

V= Voluntary in Ohio

O= Other (available through commercial labs or other states)

Argininemia V
Argininosuccinate lyase defiency M
Biotinidase deficiency O
Carnitine/acylcarnitine translocase deficiency V
Carnitine palmitoyl transferase deficiency type II V
Citrullinemia M
Congenital adrenal hyperplasia O
Congenital hypothyroidism M
Cystic fibrosis O
Galactosemia M
Glutaric acidemia type I V
Glutaric acidemia type II V
Hemoglobinopathy M
Homocystinuria M
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency V
Hypermethioninemia V
Isobutyryl-CoA dehydrogenase deficiency V
Isovaleric acidemia M
3-Ketothiolase deficiency V
Long Chain hydroxyacyl-CoA dehydrogenase deficiency V
Maple syrup urine disease (MSUD) M
Medium chain acyl CoA dehydrogenase deficiency (MCADD) M
2-Methylbutyryl-CoA dehydrogenase deficiency V
3-Methylcrotonyl-CoA carboxylase deficiency V
Methylmalonic acidemia M
Multiple CoA carboxylase deficiency V
Phenylketonuria (PKU) M
Propionic acidemia M
Short chain Acyl-CoA dehydrogenase deficiency V
Trifunctional protein deficiency V
Very long chain Acyl-CoA dehydrogenase deficiency V

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Genetic, Endocrine and Metabolic Testing

Reference List of Conditions

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