Phenylketonuria (PAH) Sequencing

Disorder Phenylketonuria (PKU)
Gene Name PAH
Clinical info Phenylketonuria (PKU) is caused by a deficiency of phenylalanine hydroxylase. This deficiency leads to an elevation in the levels of phenylalanine in the brain, blood and other tissues. This condition is treatable with a life long diet low in phenylalanine and is part of all state newborn screening programs. Individuals with PKU have mutations in the PAH gene, which has been localized to 12q24.1.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests Biochemical analysis of phenylalanaine and tyrosine is available for confirmation of a diagnosis and monitoring of levels in confirmed patients.
Detection Sequencing of the gene will detect mutations in 99% of individuals with PKU.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 14 days
Prenatal testing Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81406

Known mutation: 81403

Deletion/Duplication Analysis: 81229
Cost $1000 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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