Glutaric Acidemia type I
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000328766.1
CAP
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2012-12-08
Last annual review date for the lab: 2023-10-09 LinkOut
At a Glance
Diagnosis; Screening
Glutaric aciduria, type 1
3-hydroxyglutaric acid; Glutaric acid; Glutarylcarnitine
Biochemical Genetics - Analyte: Gas Chromatography-Mass Spectrometry; Tandem mass spectrometry (MS/MS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Clinical Biochemical Genetics Diagnostic Laboratory
View lab's website
Test short name: Help
GA1
Specimen Source: Help
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 3
Analyte Associated Condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Analyte
Gas Chromatography-Mass Spectrometry
Analyte
Tandem mass spectrometry (MS/MS)
API4000
Clinical Information
Test purpose: Help
Diagnosis; Screening
Recommended fields not provided:
Technical Information
Test Procedure: Help
Plasma Acylcarnitines and Urine organic acids
Test Platform:
None/not applicable
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Plasma acylcarnitines and urine organic acids have a precision of less than 10% CV.
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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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