Diagnostic evaluation for glutaric acidemia type I. Use in conjunction with urine organic acids and plasma acylcarnitines.
- Patient Preparation
- 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.
- 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 http://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
- Ambient: Unacceptable; Refrigerated: 24 hours; Frozen: 1 month
|Available Separately||Components||Reference Interval|
|No||Glutarylcarnitine, Urine||0.0 - 0.5 mmol/mol creatinine|
|Component Test Code*||Component Chart Name||LOINC|
|2002778||Glutarylcarnitine, Urine Interpretation|
- Acylcarnitines, urine
- C5-DC Acylcarnitine
- GA 1
- GCDH Def
- Glutaric Aciduria 1
- Glutaric Aciduria Type I
- Glutaryl CoA Dehydrogenase Deficiency