Conditions screened for in the WA newborn bloodspot screening program

The WA Newborn Bloodspot Screening Program screens for about 25 conditions. The following information is designed to provide clinical information to health care providers on the conditions screened. If you are a parent and wish to learn more about your baby’s newborn bloodspot screening test and the conditions screened in WA, please visit the Healthy WA webpage.

Conditions screened
Phenylketonuria (PKU)
Congenital hypothyroidism
Cystic fibrosis
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Other amino acid disorders Argininosuccinic aciduria
Classical homocystinuria
Maple syrup urine disease (MSUD)
Tyrosinaemia type I (and II)
Other fatty acid oxidation disorders Carnitine-acylcarnitine translocase deficiency (CACT)
Carnitine palmitoyltransferase deficiency type I (CPT-I)
Carnitine palmitoyltransferase deficiency type II (CPT-II)
Carnitine transporter defect (CTD)
Glutaric aciduria type II (GA-2)
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (including Trifunctional protein deficiency)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
Organic acid disorders 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency
Beta-ketothiolase (BKT) deficiency
Glutaric aciduria type I (GA-I)
Hydroxymethylglutaric aciduria
Isovaleric acidaemia (IVA)
Methylmalonic aciduria (MMA) (mutase deficiency, Cbl A, B, C, D)
Multiple carboxylase deficiency (MCD)
Propionic acidaemia (PA)
Last reviewed: 07-01-2021