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Phenylketonuria (Biochemical genetic testing)
Clinical Genetic Test
Help
offered by
CEN4GEN Institute for Genomics and Molecular Diagnostics
GTR Test Accession: Help GTR000559570.2
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2024-10-04
View version history
Last annual review date for the lab: 2024-12-06 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Monitoring; Screening; ...
Conditions (1): Help
Phenylketonuria
Analytes (2): Help
Phenylalanine, Plasma; Tyrosine, Plasma
Methods (1): Help
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
This test is used for infants with a positive screening …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
CEN4GEN Institute for Genomics and Molecular Diagnostics
View lab's website
Specimen Source: Help
  • Dried blood spot (DBS) card
Who can order: Help
  • Health Care Provider
Test Order Code: Help
BCG00002
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 2
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring; Screening; Therapeutic management
Target population: Help
This test is used for infants with a positive screening result suggestive of a metabolic disorder, monitoring or evaluating patients diagnosed or suspected of a metabolic condition.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical validity for this analysis is 99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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