Phenylketonuria (PKU) (PAH) Targeted Testing

AKA: Phenylalanine Hydroxylase Deficiency

Short Name: PAH Targeted

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH), an enzyme that catalyzes the conversion of phenylalanine to tyrosine. If undiagnosed and untreated, PKU can result in intellectual delay, seizures and other serious medical problems. The c.1066-11G>A variant in intron 10 of the PAH gene is the most frequent pathogenic variant found in the Ohio Amish population. This targeted test will specifically analyze the c.1066-11G>A variant.

The c.284_286delTCA variant is also common in the Old Order Amish population and is available upon request.

CPT Code: 81403

Turn-Around Time: 1-2 weeks