Ordering Recommendation

Diagnostic evaluation for glutaric acidemia type I. Use in conjunction with urine organic acids and plasma acylcarnitines.

Mnemonic
C5DC URINE
Methodology

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

Performed

Thurs

Reported

4-11 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Random urine. Avoid dilute urine when possible.

Specimen Preparation

Transfer 2.5 mL urine to an ARUP Standard Transport Tube and freeze immediately. (Min: 0.5 mL)

Storage/Transport Temperature

CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.

Unacceptable Conditions

Specimens that have exposed to more than one freeze/thaw cycle.

Remarks

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.

Stability

Ambient: Unacceptable; Refrigerated: 24 hours; Frozen: 1 month

Reference Interval

Reports include age appropriate reference interval.

Available Separately
Components
Reference Interval
No Glutarylcarnitine, Urine 0.0 - 0.5 mmol/mol creatinine

Interpretive Data

If patient is receiving carnitine supplements, results may not be informative.  Clinical correlation is recommended for interpretation of the result.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

82017

Components
Component Test Code* Component Chart Name LOINC
2001511 Glutarylcarnitine, Urine 54279-5
2001513 Creatinine, Urine 2161-8
2002778 Glutarylcarnitine, Urine Interpretation 48767-8
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Acylcarnitines, urine
  • C5-DC Acylcarnitine
  • GA 1
  • GA-1
  • GA1
  • GCDH Def
  • Glutaric Aciduria 1
  • Glutaric Aciduria Type I
  • Glutaryl CoA Dehydrogenase Deficiency
Glutarylcarnitine Quantitative, Urine