Ordering Recommendation
Diagnostic evaluation for glutaric acidemia type I. Use in conjunction with urine organic acids and plasma acylcarnitines.
Mnemonic
Methodology
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Performed
Thurs
Reported
4-11 days
New York DOH Approval Status
Specimen Required
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
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.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
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
- Acylcarnitines, urine
- C5-DC Acylcarnitine
- GA 1
- GA-1
- GA1
- GCDH Def
- Glutaric Aciduria 1
- Glutaric Aciduria Type I
- Glutaryl CoA Dehydrogenase Deficiency