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Test Code HGEMP Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Plasma

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, P

Specimen Type

Plasma


Necessary Information


Patient's age is required.



Specimen Required


Collection Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA) plasma

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
Plasma Refrigerated (preferred) 90 days
  Frozen  90 days
  Ambient  12 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
HGEMP HGEM, P 92673-3

 

Result ID Test Result Name Result LOINC Value
36062 2-OH Glutaric acid 69845-6
36063 3-OH Glutaric acid 69851-4
36064 Glutaric acid 27301-1
36065 Methylsuccinic acid 69829-0
36066 Ethylmalonic acid 79476-8
36067 Interpretation (HGEMP) 59462-2
36068 Reviewed By 18771-6

Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.