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Glutarylcarnitine Quantitative, Urine
Ordering Recommendation
Diagnostic evaluation for glutaric acidemia type I. Use in conjunction with urine organic acids and plasma acylcarnitines.
New York DOH Approval Status
Specimen Required
Random urine.
Transfer 2.5 mL urine to an ARUP standard transport tube and freeze immediately. (Min: 1.0 mL)
Frozen. Separate specimens must be submitted when multiple tests are ordered.
Specimens that have been exposed to more than three freeze/thaw cycles.
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: 1 week; Frozen: 1 month
Methodology
Liquid Chromatography-Tandem Mass Spectrometry
Performed
Tue
Reported
4-11 days
Reference Interval
Reports include age appropriate reference interval.
| Available Separately |
Components |
Reference Interval |
|---|---|---|
| No | Glutarylcarnitine, Urine | Less than or equal to 2.0 mmol/mol creatinine |
Interpretive Data
Methodology: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
If patient is receiving carnitine supplements, results may not be informative. Clinical correlation is recommended for interpretation of the result.
Laboratory Developed Test (LDT)
Note
Hotline History
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 |
Aliases
- C5-DC Acylcarnitine
- GA 1
- GA-1
- GA1
- GCDH Def
- Glutaric Aciduria 1
- Glutaryl CoA Dehydrogenase Deficiency
- Glutaric Aciduria Type I
- Acylcarnitines, urine
