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HGEM, S
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
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GTR Test Accession: Help GTR000597437.3
INHERITED DISEASEMETABOLIC DISEASEMITOCHONDRIAL DISEASE ... View more
Last updated in GTR: 2024-04-25
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (4): Help
Multiple acyl-CoA dehydrogenase deficiency; Deficiency of isobutyryl-CoA dehydrogenase; Ethylmalonic encephalopathy more...
Analytes (1): Help
Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid
Methods (1): Help
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
Evaluation of patients with an abnormal newborn screen showing elevations …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
HGEMS
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
biochemicalgenetics@mayo.edu
1-800-533-1710
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
https://www.mayocliniclabs.com/test-catalog/overview/62231#Specimen
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:
Test strategy
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
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.
Research:
Is research allowed on the sample after clinical testing is complete? Help
N/A
Recommended fields not provided:
Clinical validity, 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?, Sample negative report, Sample positive report
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
Yes

Method used for proficiency testing: Help
Intra-Laboratory

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:
Test Confirmation, Citations to support assay limitations, Citations to support internal test validation method, Citations for Analytical validity, PT Provider, 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.