GTR Test Accession: Help GTR000597437.3
Last updated in GTR: 2024-04-25
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Multiple acyl-CoA dehydrogenase deficiency; Deficiency of isobutyryl-CoA dehydrogenase; Ethylmalonic encephalopathy; ...
Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Evaluation of patients with an abnormal newborn screen showing elevations …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
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
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Total methods: 1
Method Category Help
Test method Help
Instrument *
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Boy N, Mengler K, Heringer-Seifert J, Hoffmann GF, Garbade SF, Kölker S. Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis. Genet Med. 2021;23(1):13-21. doi:10.1038/s41436-020-00971-4. Epub 2020 Sep 28. PMID: 32981931.

Target population: Help
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using serum specimens. Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the differential diagnosis of short chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies. Diagnosis of glutaric acidemia type 1. Aiding … View more
View citations (1)
  • Acylcarnitine profile analysis. Rinaldo P, et al. Genet Med. 2008;10(2):151-6. doi:10.1097/GIM.0b013e3181614289. PMID: 18281923.
Is research allowed on the sample after clinical testing is complete? Help
Recommended fields not provided:
Technical Information
Test Procedure: Help
An aqueous internal standard is added to the plasma specimen. The supernatant is evaporated under heated nitrogen and the residue is then reconstituted prior to injection onto a liquid chromatography-tandem mass spectrometry (LC-MS/MS). The MS/MS is operated in the multiple reaction monitoring (MRM) negative mode to follow the precursor to … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 112%. Intra assay precision was performed at 2 levels: CV results ranged from 2.1%-23.9% (N=20 each). Inter assay precision was performed at 2 levels: CVs (N=20 each) ranged from 3.5%-95.1% where higher CVs were obtained for physiologically low analyte concentrations. The … View more
Assay limitations: Help
No significant cautionary statements
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

Description of PT method: Help
Intra-laboratory alternative assessment of performance through quality control or patient blind testing

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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