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Propionic Acidemia
Clinical Genetic Test
Help
offered by
Clinical Biochemical Genetics Diagnostic Laboratory
GTR Test Accession: Help GTR000282352.1
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2012-12-08
View version history
Last annual review date for the lab: 2023-10-09 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (1): Help
Propionic acidemia
Analytes (5): Help
3-hydroxypropionic acid; Methylcitric acid; Propionylcarnitine; Propionylglycine; Tiglylglycine
Methods (2): Help
Biochemical Genetics - Analyte: Gas Chromatography-Mass Spectrometry; Tandem mass spectrometry (MS/MS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Clinical Biochemical Genetics Diagnostic Laboratory
View lab's website
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:
Test Order Code, How to Order, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 5
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
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
Urine organic acids and plasma acylcarnitines have a CV of less than 10%
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: FDA exercises enforcement discretion
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.