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.read more
By gene: PAH
Next Gen Sequencing & Del/Dup Analysis
Test Code: 6007
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Typically within 2 weeks from receipt of a sample in the laboratory.
1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
2. Genomic DNA: a minimum of 3 ug (at a concentration of at least 30 ng/ul)
Ship all specimen types at room temperature by overnight courier. Do no freeze.