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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
Genetics Test Information
Second-tier newborn screening for follow-up of C4 acylcarnitine and glutarylcarnitine (C5DC) elevations.
Differentiating diagnoses of short-chain Co-A dehydrogenase (SCAD) deficiency, isobutyryl-CoA dehydrogenase (IBDH) deficiency, and ethylmalonic encephalopathy.
Differentiating diagnoses of glutaric acidemia type I (GA-1) and glutaric acidemia type II (GA-2)
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
HGEM, SSpecimen Type
Serum RedNecessary Information
Patient's age is required.
Specimen Required
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 Minimum Volume
0.02 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum Red | Refrigerated (preferred) | 90 days | |
| Frozen | 90 days | ||
| Ambient | 4 days |
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
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
83918
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| HGEMS | HGEM, S | 92673-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 36055 | 2-OH Glutaric acid | 69845-6 |
| 36056 | 3-OH Glutaric acid | 69851-4 |
| 36057 | Glutaric acid | 27301-1 |
| 36058 | Methylsuccinic acid | 69829-0 |
| 36059 | Ethylmalonic acid | 79476-8 |
| 36060 | Interpretation (HGEMS) | 59462-2 |
| 36061 | Reviewed By | 18771-6 |
NY State Approved
YesForms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.