Phenylketonura (PKU)
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.
Individuals with PKU have mutations in the PAH gene, which has been
localized to 12q24.1. Sequencing analysis of the PAH gene detects
approximately 99% of the causative mutations in these patients.
Sample requirements: 5 to10 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. If
necessary, ACD solution A Vacutainer tubes (yellow top) may be
submitted. Please contact the laboratory for more information.
Transport: All samples should be shipped at
room temperature and delivered via overnight courier. (FedEx is
preferred.) Do not freeze the specimen prior to transport. It is
preferable to ship samples early in the week for delivery Monday through
Friday. Please contact Tim Wood (1-800-473-9411) in the
Biochemical Diagnostic Laboratory for details regarding transport.
Analysis standards: Testing will be completed
within 4 weeks of sample receipt. The referring party will be contacted
should delays arise. Technical staff members assess the quality and
interpretation of all test results. Following an independent analysis of
results by the Director of the Laboratory, a hard copy report will be
issued. Verbal reports with consultation are available upon request by
the referring party.
Unknown mutation(s): CPT Codes: 83890, 83898
(x5), 83904 (x4), 83909 (x4), 83912
Known mutation(s): CPT Codes: 83890, 83898, 83904
(x2), 83909, 83912
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