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Phenylalanine, Quantitative
Clinical Genetic Test
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offered by
Biochemical Genetics Laboratory
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GTR Test Accession: Help GTR000530637.1
CAP
METABOLIC DISEASEINHERITED DISEASE
Last updated in GTR: 2016-05-03
View version history
Last annual review date for the lab: 2023-06-01 LinkOut
At a Glance
Test purpose: Help
Monitoring
Conditions (2): Help
Phenylketonuria; Hyperphenylalaninemia
Analytes (2): Help
Phenylalanine; Tyrosine
Methods (1): Help
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
Monitoring of patients with phenylketonuria.
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Biochemical Genetics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
700205
View other test codes
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
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
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
Conditions Help
Total conditions: 2
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
Monitoring
Target population: Help
Monitoring of patients with phenylketonuria.
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
Interpretation performed in-house
Report generated in-house
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab

Test performance comments
Specimen prep and LC-MS/MS performed at LabCorp Center for Esoteric Testing Mass Spec Lab
Analytical Validity: Help
Values are accurate within 15% of the actual concentration
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number:
Status: Pending
Additional Information

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