Diagnostic evaluation for glutaric acidemia type I. Use in conjunction with urine organic acids and plasma acylcarnitines.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Random urine. Avoid dilute urine when possible.
Transfer 2.5 mL urine to an ARUP Standard Transport Tube and freeze immediately. (Min: 0.5 mL)
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.
Specimens that have exposed to more than one freeze/thaw cycle.
Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g., TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
Ambient: Unacceptable; Refrigerated: 24 hours; Frozen: 1 month
Reports include age appropriate reference interval.
|No||Glutarylcarnitine, Urine||0.0 - 0.5 mmol/mol creatinine|
If patient is receiving carnitine supplements, results may not be informative. Clinical correlation is recommended for interpretation of the result.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2002778||Glutarylcarnitine, Urine Interpretation||48767-8|
- Acylcarnitines, urine
- C5-DC Acylcarnitine
- GA 1
- GCDH Def
- Glutaric Aciduria 1
- Glutaric Aciduria Type I
- Glutaryl CoA Dehydrogenase Deficiency