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.


Phenylalanine*. Pterins urine.

Cystic fibrosis

Chloride sweat; Molecular genetics.


Thyroid stimulating hormone*, Free T4*.


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.

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