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Amino Acid Analysis, Plasma
Clinical Genetic Test
Help
offered by
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's test page
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GTR Test Accession: Help GTR000506211.5
CAP
METABOLIC DISEASEINHERITED DISEASEREPRODUCTIVE HEALTH ... View more
Last updated in GTR: 2021-06-24
View version history
Last annual review date for the lab: 2023-07-07 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (19): Help
Phenylketonuria; 2-aminoadipic 2-oxoadipic aciduria; Arginase deficiency; ...
Analytes (17): Help
Alloisoleucine; Arginine; Argininosuccinic acid; Citrulline; Glycine; ...
Methods (1): Help
Biochemical Genetics - Analyte: Liquid chromatography–mass spectrometry (LC-MS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
767
View other test codes
Lab contact: Help
Biochemical Genetic Department, ,
949-728-4423 or 949-728-4817
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
Based on applicable state law
Test strategy: Help
http://www.questdiagnostics.com/
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test development
Conditions Help
Total conditions: 19
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 17
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Liquid chromatography–mass spectrometry (LC-MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
LOQ=1-6 mcmol/l; +- 15%
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

Description of PT method: Help
In addition to CAP, we also participate in ERNDIM and INSTAND proficiency testing.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.