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Organic Acids, Comprehensive, Quantitative, Urine
Clinical Genetic Test
Help
offered by
Quest Diagnostics Nichols Institute San Juan Capistrano
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GTR Test Accession: Help GTR000506215.8
INHERITED DISEASEMETABOLIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2023-06-14
View version history
Last annual review date for the lab: 2024-06-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (38): Help
Propionic acidemia; 2-aminoadipic 2-oxoadipic aciduria; 2-hydroxyglutaric aciduria more...
Analytes (54): Help
2-Oxoisocaproic acid; 2-Oxoisovalerate; 2-ethyl-3-hydroxypropionic acid; 2-hydroxy-3-methylvaleric acid; 2-hydroxyadipic acid more...
Methods (1): Help
Biochemical Genetics - Analyte: Gas chromatography–mass spectrometry (GC-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
35819
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: 38
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 54
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Gas chromatography–mass spectrometry (GC-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=1-2 mmol/mol crt ; +-30% accuracy
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
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
Not provided
Additional Information

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