Phenylketonuria (Biochemical genetic testing)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000559570.1
- Last updated: 2023-12-05
- Test version history
- 559570.1, last updated: 2023-12-05
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Phenylketonuria
Offered by CEN4GEN Institute for Genomics and Molecular Diagnostics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Phenylketonuria (Biochemical genetic testing)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Screening, Monitoring, Diagnosis, Therapeutic management
Click Indication tab for more information.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://diagnostics.cen4gen.org/diagnostics/order-a-test/
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Biochemical Genetics
- AAnalyte
- Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
- Camp et al., 2014Phenylketonuria Scientific Review Conference: State of the science and future research needs.
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Phenylalanine, Phenylalanine hydroxylase deficiency (PAH), 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, PAH deficiency: Elevated Phenylalanine, 2022
- GMDI/SERN, 2022PKU Nutrition Management Guidelines
- ACMG ACT, 2012American College of Medical Genetics and Genomics, Adult Genetics Disease ACT Sheet, Adult Phenylketonuria (PKU), 2012
- EuroGenetest, 2011Clinical utility gene card for: Phenylketonuria.
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.