Phenylketonuria Carrier Screening

This test is designed to detect carriers of phenylketonuria. Phenylketonuria (PKU) is an autosomal recessive disorder resulting from faulty metabolism of the amino acid, phenylalanine. In individuals with untreated PKU, dietary intake of phenylalanine can lead to profound intellectual disability, behavioral issues, epilepsy, hypopigmentation, and a musty body odor. Additionally, women with PKU are at risk for having children with various birth defects due to exposure of the baby to high phenylalanine levels from maternal plasma. Newborn screening and early initiation of treatment, including lifelong dietary restriction of phenylalanine, can significantly improve disease prognosis. PKU (MIM 261600) is caused by pathogenic variants in the PAH gene (NM_000277). Individuals with a heterozygous pathogenic PAH variant are carriers for PKU and are at risk of having a child with this disorder. If both reproductive partners are PKU carriers, the risk for PKU in their children is 25%. The prevalence of PKU varies in different populations and is more common in individuals of Turkish, Irish, northern European, and East Asian ancestry. This test is intended for pre/post-conception carrier screening and is not intended for diagnostic testing.






81406 x 1


Test Code

Additional Test Codes
Please call for pricing

Turnaround Time
Typically within 2 weeks from receipt of a sample in the laboratory.

Prenatal Specimens
SpecimensWhole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.