Test ID: CARNS
Carnitine, Serum
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
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
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Method Name A short description of the method used to perform the test
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Collection Container/Tube:
Preferred: Red top
Acceptable: Serum gel
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Forms: If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | Mild OK; Gross OK |
| Lipemia | Mild OK; Gross OK |
| Icterus | Mild OK; Gross OK |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Serum | Frozen (preferred) | 7 days |
| Ambient | 7 days | |
| Refrigerated | 7 days |
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
-Buffering 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, tissue, 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 disorders, 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. Individually, the incidence of these disorders varies from <1:10,000 to >1:1,000,000 live births. Collectively, their incidence is approximately 1:1,000 live births. Primary carnitine deficiency has an incidence of approximately 1 in 21,000 live births based on Minnesota newborn screening data.
Other conditions which could cause an abnormal carnitine level are 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 |
| 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 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 Provides recommendations for further in-depth reading of a clinical nature
1. Scaglia F, Longo N: Primary and secondary alterations of neonatal carnitine metabolism. Semin Perinatol 1999;23:152-161
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):1353-62
Method Description Describes how the test is performed and provides a method-specific reference
Free and total carnitine 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 (Q1) detects carnitine and d3-carnitine precursors, and transmits them to a collision cell (Q2) within the mass spectrometer where they are fragmented. Specific fragments derived from the carnitine and internal standard are monitored in the second mass spectrometer (Q3).(Stevens RD, Hillman SL, Worthy S, et al: Assay for free and total carnitine in human plasma using tandem mass spectrometry. Clin Chem 2000;46:727-729)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday; 11 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
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 The location of the laboratory that performs the test
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's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
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 Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
82379
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 32045 | Total | 14288-5 |
| 32046 | Free (FC) | 14286-9 |
| 32047 | Acylcarnitine (AC) | 14282-8 |
| 32048 | AC/FC Ratio | 30193-7 |
| 32049 | Interpretation | 59462-2 |
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