What Disorders are Screened for in Washington State?

We test babies born in Washington State for the treatable disorders listed below. Babies with these conditions usually appear normal at birth. Without screening, babies with these disorders are not likely to be detected before disability or death occurs. Our testing and follow-up services allow early diagnosis and treatment.

This screening is mandated by statute (Chapter 70.83 RCW) with regulations adopted by the State Board of Health (Chapter 246-650 WAC).

Although not mandated, a routine second newborn screen is recommended for all infants between 7 and 14 days of age as a standard of medical practice to optimize disease detection for all infants.

Learn about Disorders Detected by Newborn Blood Spot Screening (PDF) Spanish version (PDF)

Amino Acid Disorders

Argininosuccinic acidemia (ASA)

Citrullinemia (CIT)

Homocystinuria (HCY)

Maple syrup urine disease (MSUD)

Phenylketonuria (PKU)

Tyrosinemia type 1 (TYR)

Endocrine Disorders

Congenital adrenal hyperplasia (CAH)

Congenital hypothyroidism (CH)

Fatty Acid Disorders

Carnitine uptake deficiency (CUD)

Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (LCHAD)

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

Trifunctional protein deficiency (TFP)

Very-long chain acyl-CoA dehydrogenase deficiency (VLCAD)

Lysosomal Storage Disorders

Glycogen storage disorder type II (Pompe)

Mucopolysaccharidosis type I (MPS-I)

Organic Acid Disorders

3-hydroxy-3-methylglutaric aciduria (HMG)

Beta-ketothiolase deficiency (BKT)

Glutaric acidemia type I (GA-1)

Isovaleric acidemia (IVA)

Methylmalonic acidemias (CblA, B, and MUT)

Multiple carboxylase deficiency (MCD)

Propionic acidemia (PROP)

Other Disorders

Biotinidase deficiency (BIO)

Cystic fibrosis (CF)

Galactosemia (GALT)

Severe combined immunodeficiency (SCID)

Sickle cell diseases and Hemoglobinopathies (HGB)

Spinal Muscular Atrophy (SMA)

X-linked adrenoleukodystrophy (X-ALD)