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HelpTest ID HGEMS Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Serum
Useful For
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 in diagnosis of glutaric acidemia type 2
Specimen Type
Serum RedNecessary Information
Patient's age is required.
Specimen Required
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 0.1 mL
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Serum Red | Refrigerated (preferred) | 90 days |
| Frozen | 90 days | |
| Ambient | 4 days |
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Reference Values
2-OH Glutaric acid: ≤4.5 nmol/mL
3-OH Glutaric acid: ≤0.7 nmol/mL
Glutaric acid: ≤0.8 nmol/mL
Methylsuccinic acid: ≤0.3 nmol/mL
Ethylmalonic acid: ≤1.5 nmol/mL
Day(s) Performed
Monday, Wednesday
Report Available
3 to 7 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
83918
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.