Diseases screened for include:
Aminoacidopathies, including Phenylketonuria, maple syrup urine disease, homocystinuria (tandem mass spectrometry).
Organic acidaemias, including methylmalonic aciduria, propionic acidaemia, isovaleric acidaemia, glutaric aciduria type I (tandem mass spectrometry).
Fatty acid oxidation defects, including carnitine transporter defect, carnitine translocase deficiency, carnitine palmitoyl transferase deficiencies, short-, medium-, and very long-chain and long-chain 3-hydroxy acyl-CoA dehydrogenase deficiencies, glutaric aciduria type I (tandem mass spectrometry).
Congenital Hypothyroidism: TSH (immunoassay).
Cystic fibrosis: trypsin(ogen) (immunoassay), mutation genotyping (molecular genetics: PCR based identification).
Galactosaemia: galactose-1-phosphate, galactose (tandem mass spectrometry). (Not performed in Victoria.)
Other rare inborn errors of metabolism - may vary from state to state.