Search
PAH gene mutation; phenylalanine hydroxylase gene mutation; phenylketonuria genotyping
Indications:
- phenylketonuria
Specimen:
1) whole blood (ACD or EDTA)
2) store whole blood at 4 degrees C
Clinical significance:
- severity of hyperphenylalaninemia & phenylketonuria correlates with extent of mutation
Related
phenylalanine-4-hydroxylase; phenylalanine-4-monooxygenase (PAH)
phenylketonuria (PKU)
General
gene mutation testing; gene mutation analysis
References
- Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed.,
W.B. Saunders, 1995
- Loinc