UncategorizedPhenylketonuria Gene Sequence Analysis (PAH Gene)

• Test Name: Phenylketonuria Gene Sequence Analysis (PAH Gene)
• Test Code: 3370

• Phenylketonuria (OMIM #: 261600) || Gene: PAH (OMIM #: 612349)

• PKU Genetic Analysis
• Phenylalanine Hydroxylase Gene Deficiency
• PAH Mutations

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 1 week

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Inborn Errors of Metabolism