Test Code C5DCU C5-DC Acylcarnitine, Quantitative, Random, Urine
Performing Laboratory
Mayo Clinic Laboratories in RochesterReporting Name
C5-DC Acylcarnitine, QN, USpecimen Type
UrineOrdering Guidance
This second-tier test is used specifically to evaluate a newborn screening elevation of glutarylcarnitine and must not be ordered with either C4U / C4 Acylcarnitine, Quantitative, Random, Urine or C5OHU / C5-OH Acylcarnitine, Quantitative, Random, Urine.
For general screening for metabolic disorders, see OAU / Organic Acids Screen, Random, Urine; ACRN / Acylcarnitines, Quantitative, Plasma; and AAQP / Amino Acids, Quantitative, Plasma.
Necessary Information
Include patient's age, family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
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
Specimen Volume: 5 mL
Collection Instructions:
1. Collect a random urine specimen.
2. Freeze specimen immediately.
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Urine | Frozen (preferred) | 7 days | |
Refrigerated | 24 hours |
Specimen Minimum Volume
1 mL
Day(s) Performed
Monday, Wednesday, Friday
Specimen Retention Time
1 monthReport Available
2 to 5 daysReference Values
<1.54 millimoles/mole creatinine
Useful For
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine
Diagnosis of glutaric aciduria type 1 deficiency
CPT Code Information
82017
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
C5DCU | C5-DC Acylcarnitine, QN, U | 54279-5 |
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 | 18771-6 |
Genetics Test Information
Elevated glutarylcarnitine (C5-DC) in plasma or newborn screening blood spots is due to glutaric aciduria type 1 (GA-1), also known as glutaric acidemia type 1.
Urine C5-DC 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.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.