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Test Code C4U C4 Acylcarnitine, Quantitative, Random, Urine

Reporting Name

C4 Acylcarnitine, QN, U

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Evaluation of patients with abnormal newborn screens showing elevations of iso-/butyrylcarnitine to aid in the differential diagnosis of short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies

Method Name

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


Ordering Guidance


This second-tier test is used specifically to evaluate a newborn screening elevation of iso-/butyrylcarnitine and must not be ordered with either C5OHU / C5-OH Acylcarnitine, Quantitative, Random, Urine or C5DCU / C5-DC 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.


Specimen Type

Urine

Specimen Minimum Volume

1 mL

Specimen Stability Information

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

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

<3.00 millimoles/mole creatinine

Interpretation

Almost all patients with isobutyryl-CoA dehydrogenase deficiency excrete an abnormal amount of iso-/butyrylcarnitine (C4) in their urine. Some, but not all, affected individuals also excrete elevated levels of isobutyrylglycine. Conversely, patients with short-chain acyl-CoA dehydrogenase deficiency can have a normal excretion of C4.

Day(s) Performed

Monday, Wednesday, Friday

Report Available

2 to 5 days

Test Classification

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

CPT Code Information

82017

LOINC Code Information

Test ID Test Order Name Order LOINC Value
C4U C4 Acylcarnitine, QN, U 53111-1

 

Result ID Test Result Name Result LOINC Value
88829 C4 Acylcarnitine, QN, U 53111-1
28075 C4 Interpretation 59462-2
34468 Reviewed By 18771-6