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Test Code CARNS Carnitine, Serum

Reporting Name

Carnitine, S

Useful For

Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias, fatty acid oxidation disorders, and primary carnitine deficiency using serum specimens

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Serum


Necessary Information


Patient's age is required.



Specimen Required


Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Collection Instructions: Centrifuge and aliquot serum into a plastic vial.


Specimen Minimum Volume

0.2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Frozen (preferred) 60 days
  Refrigerated  21 days
  Ambient  7 days

Reference Values

 

Total carnitine (TC)

Free carnitine (FC)

Acylcarnitine (AC)

AC/FC Ratio

Age Group

Range*

Range*

Range*

Range

≤1 day

23-68

12-36

7-37

0.4-1.7

2-7 days

17-41

10-21

3-24

0.2-1.4

8-31 days

19-59

12-46

4-15

0.1-0.7

32 days-12 months

38-68

27-49

7-19

0.2-0.5

13 months-6 years

35-84

24-63

4-28

0.1-0.8

7-10 years

28-83

22-66

3-32

0.1-0.9

11-17 years

34-77

22-65

4-29

0.1-0.9

≥18 years

34-78

25-54

5-30

0.1-0.8

 

*Values expressed as nmol/mL

Schmidt-Sommerfeld E, Werner E, Penn D: Carnitine plasma concentrations in 353 metabolically healthy children. Eur J Pediatr. 1988;147:356-360

Used with permission of European Journal of Pediatrics.

Day(s) Performed

Monday through Friday

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

82379

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CARNS Carnitine, S 97182-0

 

Result ID Test Result Name Result LOINC Value
32045 Total 14288-5
32046 Free (FC) 14286-9
32047 Acylcarnitine (AC) 14282-8
32048 AC/FC Ratio 30193-7
32049 Interpretation 59462-2

Interpretation

When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.

Clinical Reference

1. Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012;18;7:68

2. Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006;142C(2):77-85

3. Zammit VA, Ramsay RR, Bonomini M, Arduini A. Carnitine, mitochondrial function and therapy. Adv Drug Deliv Rev. 2009;61(14):1353-1362

4. El-Hattab AW: Systemic primary carnitine deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2012. Updated November 3, 2016. Accessed November 27, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK84551/

5. Longo N., Frigeni M., Pasquali M. Carnitine transport and fatty acid oxidation. Biochim. Biophys. Acta. 2016;1863:2422-2435

6. Almannai M, Alfadhel M, El-Hattab AW. Carnitine inborn errors of metabolism. Molecules. 2019;24(18):3251

Report Available

3 to 5 days

Method Name

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