GTR Home > Tests > Phenylketonuria (Monitoring): Phenylalanine and Tyrosine, Quantitative, Dried Blood Spot

Overview

Test order codeHelp: FP

Test name

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Phenylketonuria (Monitoring): Phenylalanine and Tyrosine, Quantitative, Dried Blood Spot (PKU: Phe & Tyr Monitoring, DBS)

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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

Summary of what is tested

0 genes and variants, 2 analytes. Click Methodology tab for more information.

Analytes

  • Phenylalanine
  • Tyrosine

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: http://genetics.emory.edu/egl/tests/view.php?searchtype=4&testquery=fp&testid=332

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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