Colorado is a two screen state and these are the disorders tested on the first and second screen.
Amino acid disorders
- Arginase deficiency.
- Argininosuccinic acidemia.
- Citrullinemia.
- Homocystinuria.
- Hypermethioninemia.
- Maple syrup urine disease.
- Phenylketonuria (PKU).
- Tyrosinemias.
Cystic Fibrosis ACT Sheets
- CF Elevated IRT with 1 CFTR variant detected
- CF Elevated IRT with 0 CFTR variants detected
- CF Elevated IRT with 2 CFTR variants detected
- CF 2 Highly Elevated IRT with 0 CFTR variants
- CF Single Highly Elevated IRT with 0 CFTR variants
Endocrine disorders
Fatty acid oxidation disorders
- Carnitine acylcarnitine translocase deficiency.
- Carnitine palmitoyltransferase II deficiency.
- Carnitine palmitoyltransferase deficiency 1a.
- Carnitine uptake defect.
- Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.
- Medium-chain acyl-CoA dehydrogenase deficiency.
- Short-chain acyl-CoA dehydrogenase deficiency.
- Trifunctional protein deficiency.
- Very long-chain acyl-CoA dehydrogenase deficiency.
Hemoglobinopathies
Lysosomal Storage Disorders
Organic acid disorders
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase deficiency.
- 3-Methylcrotonyl-CoA carboxylase deficiency.
- 3-Methyglutaconic aciduria (3-MGA).
- Beta-ketothiolase deficiency.
- Biotinidase deficiency.
- Glutaric acidemia type I.
- Glutaric acidemia type II.
- Isovaleric acidemia.
- Malonic acidemia.
- Methylmalonic acidemias.
- Multiple carboxylase deficiency.
- Propionic acidemia.
X-linked Adrenoleukodystrophy (X-ALD) ACT Sheets
Other disorders
Newborn Blood Spot Screening Phone: 303-692-3675 | Fax: 303-691-4008 | Email: cdphe_conbs@state.co.us