Acylcarnitine Profile, Quantitative, Plasma
Use
Used in the diagnosis and monitoring of inherited disorders of fatty acid oxidation and organic acidurias. May be used as a follow-up test to some abnormal newborn screen results.
Special Instructions
Not provided.
Limitations
False-negative results can occur with acylcarnitine profiling, especially when the patient is carnitine deficient, is affected with a milder variant of a disorder, or when a clinical condition or dietary supplementation causes secondary changes to the profile. Results of acylcarnitine profiling should be interpreted in the context of clinical presentation as well as other laboratory tests, which may include urine organic acid analysis and molecular testing.
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 43433-2
- 30191-1
- 30551-6
- 55940-1
- 51413-3
- 39000-5
- 39010-4
- 30531-8
- 69573-4
- 51412-5
- 30349-5
- 30358-6
- 30540-9
- 30327-1
- 30328-9
- 53471-9
- 30331-3
- 30565-6
- 30566-4
- 30564-9
- 30238-0
- 30356-0
- 30357-8
- 30235-6
- 30234-9
- 30560-7
- 30542-5
- 30534-2
- 35656-8
- 30312-3
- 30237-2
- 46252-3
- 72486-4
- 49549-9
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.5 mL
Minimum Volume
0.1 mL
Container
Green-top (sodium heparin) tube
Collection Instructions
Transfer plasma to a plastic transport tube and freeze. To avoid delays in turnaround time when requesting multiple tests on frozen specimens, please submit separate frozen specimens for each test requested.
Storage Instructions
Frozen: 983 days (2.7 years)
Causes for Rejection
Specimen thawed or not frozen; gross hemolysis; specimen type other than frozen plasma
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | Stable x3 |
Other tests from different labs that may be relevant