Phenylalanine and Tyrosine
Related Gene(s): PAH
Phe and Tyr are selectively evaluated in dried blood spot samples to monitor dietary treatment in patients with phenylketonuria (PKU). Phe and Tyr are measured by a liquid chromatography and tandem mass spectrometry (LC-MS/MS) method.
Specimen Requirements
- Peripheral blood: Collect from finger prick or heel stick spotted on a special filter paper to make 2 full circles and air dry. Please note that complete saturation of blood in the marked circle is necessary. Blood should be sampled fasting or 4 hours postprandial. Sampling for infants should occur just before next feeding
Ordering Information
Shipping
- Ship at room temperature
- Ship to:
Sema4
62 Southfield Ave, Stamford, CT 06902
Phone: 800-298-6470 / Fax: 646-859-6870
Turnaround Time
- 1-3 days
Related Tests
- Amino Acids Full Panel
- Expanded Carrier Screening (283 Diseases)
- Expanded Carrier Screen (502 genes)
- PAH molecular testing can be ordered for diagnostic purposes via the Expanded Carrier Screen panel
