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Test Code 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)

 

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

 

Aids in diagnosis of glutaric acidemia type 2

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

HGEM, S

Specimen Type

Serum Red


Necessary Information


Patient's age is required.



Specimen Required


Container/Tube: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 0.1 mL


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) and Time(s) Performed

Monday, Wednesday; 8 a.m.

Performing 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. This test has not been cleared or approved by the U.S. 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