Conditions screened for in the WA

The WA Newborn Bloodspot Screening Program screens for over 40 target 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)
Galactosaemia
Congenital hypothyroidism
Cystic fibrosis
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Congenital adrenal hyperplasia (CAH)
Spinal muscular atrophy (SMA)
Severe combined immunodeficiency (SCID)
Other amino acid disorders	Argininosuccinic aciduria
	Citrullinaemia
	Classical homocystinuria
	Guanidinoacetate methyltransferase (GAMT) deficiency
	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)
	Malonic acidaemia
	Methylmalonic aciduria (MMA) (mutase deficiency, Cbl A, B, C, D)
	Multiple carboxylase deficiency (MCD)
	Propionic acidaemia (PA)
	Remethylation disorders

Screening for nationally agreed conditions approved by all Australian Health Ministers will be implemented in the WA NBS Program once the screening tests are fully developed. Bloodspot samples may be tested for these approved conditions as screening tests become available. A full list of conditions under implementation can be found here:

• What is screened in the program – Australian Government Department of Health and Aged Care (external site)