Test Id : CARN
Carnitine, Plasma
Useful For
Suggests clinical disorders or settings where the test may be helpful
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 plasma specimens
Highlights
Carnitine levels are disturbed in primary disorders of the carnitine cycle, or secondary disturbances of carnitine metabolism due to other biochemical disorders.
Additional testing is required to distinguish between primary and secondary deficiencies of carnitine.
Dietary intake (meat, carnitine supplementation) may cause increased carnitine values.
Abnormal results are accompanied by detailed interpretation including recommendations for follow-up testing.
Method Name
A short description of the method used to perform the test
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
L-Carnitine
Carnitine, Free and Total
Specimen Type
Describes the specimen type validated for testing
Plasma
Necessary Information
Patient's age is required.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Lavender top (EDTA), green top (lithium heparin)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions: Centrifuge and aliquot plasma into a plastic vial
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
0.2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma | Frozen (preferred) | 60 days | |
| Ambient | 7 days | ||
| Refrigerated | 21 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
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 plasma specimens
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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 is a biochemical screening test 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 1000 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 Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
| | 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.
Interpretation
Provides information to assist in interpretation of the test results
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.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Increased values may be obtained after carnitine supplementation or meat consumption.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
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
Method Description
Describes how the test is performed and provides a method-specific reference
Free and total carnitines are measured by tandem mass spectrometry (MS/MS) stable isotope dilution analysis. Hydrolysis enables measurement of total carnitine, and esterified carnitine (acylcarnitine) is calculated as the difference between the total and free carnitine. Quantification is enabled using deuterium-labeled carnitine (d3-carnitine) added as internal standard. A selected reaction monitoring experiment is performed by MS/MS. The first mass spectrometer detects carnitine and d3-carnitine precursors and transmits them to a collision cell within the mass spectrometer where they are fragmented. Specific fragments derived from the carnitine and internal standard are monitored in the second mass spectrometer.(Stevens RD, Hillman SL, Worthy S, Sanders D, Millington DS. Assay for free and total carnitine in human plasma using tandem mass spectrometry. Clin Chem. 2000;46(5):727-729; Miller MJ, Cusmano-Ozog K, Oglesbee D, Young S. ACMG Laboratory Quality Assurance Committee. Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics [ACMG]. Genet Med. 2021;23[2]:249-258)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
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- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
82379
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| CARN | Carnitine, P | 97182-0 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 32050 | Total | 14288-5 |
| 32051 | Free (FC) | 14286-9 |
| 32052 | Acylcarnitine (AC) | 14282-8 |
| 21032 | AC/FC Ratio | 30193-7 |
| 21549 | Interpretation | 59462-2 |