Disorders included in Colorado newborn blood spot screening

Colorado is a two screen state and outlined below are the disorders tested on the first versus the second newborn screen:

Amino acid disorders

• Arginase deficiency.
• Argininosuccinic acidemia.
• Citrullinemia.
• Homocystinuria.
• Hypermethioninemia.
• Maple syrup urine disease.
• Phenylketonuria (PKU).
• Tyrosinemias.

Cystic Fibrosis

• 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

• Congenital adrenal hyperplasia.
• Congenital hypothyroidism.

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.

Hemoglobin disorders

• Beta-thalassemia major.
• Sickle cell anemia.
• Hemoglobin SC disease

Lysosomal storage disorders

• Pompe Disease ACT Sheet
• Mucopolysaccharidosis Type I ACT Sheet (MPSI)

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)

• X-ALD 1st Tier MS/MS Abnormal Results
• X-ALD 2nd Tier LC/MS Abnormal Results

Other disorders

• Galactosemia.
• Severe combined immunodeficiency (SCID).
• Spinal muscular atrophy

Newborn Blood Spot Screening Phone: 303-692-3675 | Fax: 303-691-4008 | Email: cdphe_conbs@state.co.us