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Test Code:
090-21-1450-01

Order Name:
Carnitine (Plasma) **

 
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 in plasma specimens

 
Methodology:
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
 
AliasesName:
L-Carnitine
Carnitine, Free and Total
 
 
 
Test Code:
090-21-1450-01

Order Name:
Carnitine (Plasma) **

 
Collection Specimen Or Container:
Blood/ EDTA Blood (Lavender Top) 3 mL, 1 tube or
Blood/ Heparinized Blood (Green Top) 3 mL, 1 tube

 
 
Specimen Testing Type:
Plasma, minimum volume 2-3 mL (Ship Frozen)
 
Sub Mission Container:
Plastic tube
 
Rejection Criteria:


 
 
Specimen Stabillity:
Specimen Type Temperature Time
Plasma Frozen (preferred) 60 days
  Refrigerated 21 days
  Ambient 7 days

 
 
 
 
Test Code:
090-21-1450-01

Order Name:
Carnitine (Plasma) **

 
Method detail:
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
 
Schedule:
N/A **Sent out to MAYO, USA
 
Turnaround Time:
Received specimen to reported within 14 days
 
 
Performing Location:
MAYO Laboratory
Referral Lab Services, Laboratory Department 14160-2
 
 
 
Test Code:
090-21-1450-01

Order Name:
Carnitine (Plasma) **

 
 
Clinical Information:

Carnitine and its esters are required for normal energy metabolism and serve 4 primary functions:

-Importing long-chain fatty acids into the mitochondria

-Exporting naturally-occurring short-chain acyl-CoA groups from the mitochondria

-Maintaining the ratio of free CoA to esterified CoA

-Removing potentially toxic acyl-CoA groups from the cells and tissues
Evaluation of carnitine in serum, plasma, and urine screens patients for suspected primary disorders of the carnitine cycle, or secondary disturbances in carnitine levels as a result of organic acidemias and fatty acid oxidation disorders. In the latter, acyl-CoA groups accumulate and are excreted into the urine and bile as carnitine derivatives, resulting in a secondary carnitine deficiency. More than 100 such primary and secondary disorders have been described. Collectively, their incidence is approximately 1 in 1,000 live births. Primary carnitine deficiency has an incidence of approximately 1 in 21,000 live births based on Minnesota newborn screening data.
Other conditions that could cause an abnormal carnitine level include neuromuscular diseases, gastrointestinal disorders, familial cardiomyopathy, renal tubulopathies and chronic renal failure (dialysis), and prolonged treatment with steroids, antibiotics (pivalic acid), anticonvulsants (valproic acid), and total parenteral nutrition.
Follow-up testing is required to differentiate primary and secondary carnitine deficiencies and to elucidate the exact cause.

 
Reference Value:
  Total Carnitine (TC) Free Carnitine (FC) Acylcarnitine (AC) AC/FC Ratio
Age Group Range* Range* Range* Range*
< or =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
> or =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, Springer-Verlag, New York, Inc., Secaucus, NJ

 
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:
www.mayomedicallaboratories.com (Retrieved: 24 Jun 2020)