Carnitine (Free and Total), plasma or serum
| WSLH Department: | Biochemical Genetics |
| WSLH Test Code: | 531 |
| Availability: | Prior to submission of specimens for Biochemical Genetics testing, please contact the laboratory at: (608) 263-4619. |
| Turn-around Time: | 14 days |
| Recommended Uses: | Carnitine is a protein essential to fat metabolism (it is required to carry long chain fatty acids across the mitochondrial membrane; fatty acid oxidation occurs in the mitochondria to produce energy). Carnitine is stored mostly in muscle, only about 2% is found in blood, but blood is the source specimen of choice for testing because it is less invasive than obtaining muscle tissue. Carnitine deficiency can lead to muscle weakness (including the heart) and even sudden death. Treatment with oral carnitine is quite effective in treating cardiomyopathy and muscle weakness in children with carnitine deficiency. |
| Contraindications: | None |
| Additional Tests Performed: |
| Patient Preparations: | |
| Specimen Requirements: | Minimum 0.5mL plasma or serum |
| Specimen Handling & Transport: | Plasma or serum should remain frozen during transport. Note: Refrigerated specimens are acceptable provided the time between collection and receipt is less than 24 hours. |
| Collection Kit/Container: |
Serum Separator Tube (red top) or Heparin Tube (green top)
|
| Collection Instructions: | Preferred green top tube with either Sodium Heparin or Lithium Heparin additive or serum separator tube. Draw 2.5 times the volume requested. Gently invert the tube no more than eight times. Further inversion my cause loss of sample integrity. Separate plasma by centrifugation. For serum, do not centrifuge immediately after collection. Allow the blood to clot at least 30 minutes, but no more than 1 hour before centrifugation. Transfer the plasma or serum to plastic screw top freezer vial. Freeze the specimen as soon as it is separated from red blood cells. Do not ship frozen plasma or serum in glass tubes. |
| Unacceptable Conditions: | Specimens sent at ambient temperature; Specimens with contamination (blood, bacteria, lipids); Mislabeled specimens; Insufficient specimen quantity |
| Requisition Form: |
Biochemical Genetics Requisition Form
|
| Required Information: | Laboratory regulations require the following minimum information to be provided on the requisition form for a specimen to be accepted for testing: Patient name or unique identifier; date and time of collection, patient date of birth and sex, specimen type/site of collection, test request(s), clinician name and UPIN, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label. |
| Results Include: | Quantification of free, total, and esterified carnitine and interpretation of clinical significance |
| Limitations: | |
| Additional Tests Recommended: | See result report for recommendations |
| Additional Comments: |
| Methodology: | Tandem Mass Spectrometry |
| Includes: | Quantification of free, total, and esterified carnitine |
| CPT Code: | 82379 |
| Price: | For pricing information, please call 608-262-9674 |