GTR Home > Tests > Phenylketonuria (PKU): Phenylalanine Hydroxylase (PAH) Full Gene Sequencing


Test order codeHelp: SK

Test name


Phenylketonuria (PKU): Phenylalanine Hydroxylase (PAH) Full Gene Sequencing

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment



1 condition tested. Click Indication tab for more information.


Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.


Clinical validity


Not provided

Clinical utility


Not provided

How to order


Order URL Help:

Suggested reading

  • Camp et al., 2014
    Phenylketonuria Scientific Review Conference: State of the science and future research needs.

Practice guidelines

  • ACMG, 2014
    Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
  • ACMG, 2014
    Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
  • USPSTF, 2008
    Screening for Phenylketonuria (PKU): US Preventive Services Task Force Reaffirmation Recommendation: US Preventive Services Task Force
  • EuroGenetest, 2011
    Clinical utility gene card for: Phenylketonuria.

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