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Test ID: PKU    
Phenylalanine and Tyrosine, Plasma

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Useful For Suggests clinical disorders or settings where the test may be helpful

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Defects in phenylalanine hydroxylase (PAH) cause the majority of cases of hyperphenylalaninemia (HPA); however, approximately 2% of infants with HPA have impaired synthesis or recycling of tetrahydrobiopterin (BH4).

 

Phenylketonuria: Evaluation of patients with hyperphenylalaninemia or monitoring effectiveness of dietary therapy. This test is not sufficient follow-up for abnormal newborn screening results, because other causes of hyperphenylalaninemia (eg, BH4 deficiency) cannot be excluded by this test alone.

 

Tyrosinemia, type I: For medical management.

Method Name A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Phenylalanine and Tyrosine, P

Aliases Lists additional common names for a test, as an aid in searching

Phenylalanine Includes Tyrosine
PKU (Phenylketonuria)
Tyrosine
Tyrosinemia
Hyperphenylalaninemia