Use

The Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel analyzes genes that are known to cause increased phenylalanine levels on newborn screening (NBS) or plasma amino acid analysis. Hyperphenylalaninemia is most commonly due to impaired function of phenylalanine hydroxylase (PAH), the enzyme that catabolizes the amino acid phenylalanine to tyrosine, but it can also be caused by defects in the regeneration or biosynthesis of the enzyme co-factor tetrahydrobiopterin (BH4). This test is intended for individuals with a positive newborn screen for phenylketonuria (PKU), elevated plasma phenylalanine, abnormal urine pterins (tetrahydrobiopterin compounds), or a suspected diagnosis of hyperphenylalaninemia.