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Test ID C5DCU C5-DC Acylcarnitine, Quantitative, Urine

Useful For

Evaluation of patients with an abnormal newborn screen showing elevations of C5-DC

 

Diagnosis of glutaric aciduria type 1 deficiency

Genetics Test Information

Evaluation of patients with an abnormal newborn screen showing elevations of C5-DC. The results are not informative when patient is receiving L-carnitine supplements.

Highlights

Elevated glutarylcarnitine (C5DC) in plasma or newborn screening blood spots is due to glutaric aciduria type 1 (GA-1), also known as glutaric acidemia type 1.

 

Urine C5DC is a biochemical marker of GA-1 that appears to be elevated even in low excretors, who are affected patients with normal levels of glutaric acid in urine.

 

If patient is receiving L-carnitine supplementation, the result of this urine acylcarnitine test will not be informative.

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Reporting Name

C5-DC Acylcarnitine, QN, U

Specimen Type

Urine

Specimen Required

Patient Preparation: If clinically feasible, discontinue L-carnitine supplementation at least 72 hours before specimen collection.

Supplies: Urine Tubes, 10 mL (T068)

Collection Container/Tube: Clean, plastic urine collection container

Submission Container/Tube: Plastic, 10-mL urine tube (T068)

Specimen Volume: 5 mL

Collection Instructions:

1. Collect a random urine specimen.

2. Freeze specimen immediately.


Necessary Information:
Include patient's age, family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen (preferred) 7 days
  Refrigerated  24 hours

Day(s) and Time(s) Performed

Monday, Wednesday, Friday; 8:00 a.m.

Performing Laboratory

Mayo Medical Laboratories in Rochester

CPT Code Information

82017

LOINC Code Information

Test ID Test Order Name Order LOINC Value
C5DCU C5-DC Acylcarnitine, QN, U In Process

 

Result ID Test Result Name Result LOINC Value
88831 C5-DC Acylcarnitine, QN, U 54279-5
28126 C5-DC Interpretation 59462-2
34470 Reviewed By No LOINC Needed

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Forms

New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.