HGEM, S
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000597437.2
- Last updated: 2023-05-30
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Multiple acyl-CoA dehydrogenase deficiency
Offered by Mayo Clinic Laboratories
Methodology
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Biochemical Genetics
- AAnalyte
- Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Test development
HelpHow the test was developed (e.g. Laboratory Developed Test (LDT), FDA reviewed, externally manufactured kit, modified FDA-reviewed test, or combination). Intended to help differentiate certification requirements between the test types. Reflex testing not included here.Test developed by laboratory (no manufacturer test name)
Test procedure
HelpSummary of the test methodology and/ or description of the specific steps for each method used in this assay.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 product species transitions. Separation of the structural isomers 2-hydroxyglutaric acid (2OH-GA) and 3-hydroxyglutaric acid (3OH-GA) as well as glutaric acid (GA), ethylmalonic acid (EMA), and methylsuccinic acid (MSA) is accomplished by the optimization of the LC separation. The ratios of the extracted peak areas of GA, EMA, and MSA to their respective internal standards as determined by LC-MS/MS are used to calculate the concentration of each analyte in the sample.(Unpublished Mayo method)
Citations
Not provided
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C4 and C5 +/- Other Acylcarnitines, Glutaric Acidemia II (GA-II) (MADD), 2022
- ACMG Algorithm,American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia II (GA-II)/ MADD, Riboflavin Metabolism Disorder, Ethylmalonic Encephalopathy: C4 and C5 elevated +/- other elevated acylcarnitines (AC), 2022
- ACMG ACT, 2021American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C8 with Lesser Elevations of C6 and C10 Acylcarnitine, Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, 2021
- ACMG Algorithm, 2021American College of Medical Genetics and Genomics, Algorithm, C8 Elevated + Lesser Elevations of C6 and C10, 2021
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