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GTR Home > Tests > Phenylketonuria (Biochemical genetic testing)


Test order codeHelp: BCG00002

Test name


Phenylketonuria (Biochemical genetic testing)

Purpose of the test


This is a clinical test intended for Help: Screening, Monitoring, Diagnosis, Therapeutic management



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Click Indication tab for more information.

How to order


Order URL Help: http://diagnostics.cen4gen.org/diagnostics/order-a-test/

Specimen source

Dried blood spot (DBS) card


Biochemical Genetics
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Not provided

Clinical validity


Not provided

Suggested reading

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

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Phenylalanine, Phenylalanine hydroxylase deficiency (PAH), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, PAH deficiency: Elevated Phenylalanine, 2022
  • GMDI/SERN, 2022
    PKU Nutrition Management Guidelines
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Adult Genetics Disease ACT Sheet, Adult Phenylketonuria (PKU), 2012
  • EuroGenetest, 2011
    Clinical utility gene card for: Phenylketonuria.

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