Neonatal screening

Key Information

Appropriate Tests

 

All neonates should have blood collected for the government sponsored programme: see Neonatal screen.

Consult regional screening laboratory for further information.

Follow up of positive screening test, some examples

Tests designated * are also used for subsequent monitoring.

Phenylketonuria

Phenylalanine*. Pterins urine.

Cystic fibrosis

Chloride sweat; Molecular genetics.

Hypothyroidism

Thyroid stimulating hormone*, Free T4*.

Galactosaemia

Galactose-1-phosphate*, galactose-1-phosphate uridyl transferase. If these tests are normal: galactose; galactokinase.

Selected amino acid, organic acid and fatty acid oxidation disorders

Tandem mass spectrometry. Specimens are specific to the disorder.