PAH gene mutation; phenylalanine hydroxylase gene mutation; phenylketonuria genotyping

Indications

• phenylketonuria

Clinical significance

• severity of hyperphenylalaninemia & phenylketonuria correlates with extent of mutation

Specimen

• whole blood (ACD or EDTA)
• store whole blood at 4 degrees C

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• phenylalanine-4-hydroxylase; phenylalanine-4-monooxygenase (PAH)
• phenylketonuria (PKU)