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Test Code C5OHU C5-OH Acylcarnitine, Quantitative, Urine

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine (C5-OH)

Method Name

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

Reporting Name

C5-OH Acylcarnitine, QN, U

Specimen Type

Urine


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 (T068)

Specimen Volume: 5 mL

Collection Instructions:

1. Collect a random urine specimen.

2. Freeze specimen immediately.


Specimen Minimum Volume

1 mL

Specimen Stability Information

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

Reject Due To

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

NA

Reference Values

<2.93 millimoles/mole creatinine

Interpretation

Preliminary data showed that an elevated excretion in urine and concentration in plasma of 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine (C5-OH) can be the only biochemical abnormalities in patients with 3-methylcrotonylglycinuria.

 

Call 800-533-1710 for assistance in test interpretation and additional testing options.

Day(s) and Time(s) Performed

Monday, Wednesday, Friday

Analytic Time

2 days (not reported on Sunday)

Specimen Retention Time

2 months

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.

CPT Code Information

82017

LOINC Code Information

Test ID Test Order Name Order LOINC Value
C5OHU C5-OH Acylcarnitine, QN, U In Process

 

Result ID Test Result Name Result LOINC Value
88830 C5-OH Acylcarnitine, QN, U 50091-8
28125 C5-OH Interpretation 59462-2
34469 Reviewed By 18771-6

Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.