Acylcarnitine Analysis - Plasma
Use
The Acylcarnitine Analysis - Plasma is designed to evaluate 27 acylcarnitine species for potential inherited disorders affecting fatty acid oxidation or organic acid metabolism. Individuals presenting with symptoms like feeding irregularities, lethargy, seizures, or metabolic crises may benefit from this test. Inherited conditions can present at any age, which may lead to toxic metabolite buildup, causing severe health issues. Early diagnosis and intervention, such as specific dietary adjustments, can be crucial in preventing complications or fatalities.
Special Instructions
Specimen should be collected in a Sodium Heparin tube and separated as quickly as possible. It must be stored at -20 degrees Celsius and shipped frozen on dry ice to maintain integrity. Timely processing is crucial to ensure accurate results.
Limitations
Though the test can detect a range of acylcarnitine species, limitations exist regarding the specificity and sensitivity of these measurements for certain disorders. False positives or negatives can occur, particularly in situations where metabolic status is fluctuating. Therefore, it is strongly recommended that test results be used in conjunction with clinical findings and possibly further genetic testing. Consideration should also be given to the patient's age and health condition during the evaluation of results.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
Result Turnaround Time
2-8 days
Related Documents
For more information, please review the documents below
Specimen
Plasma (Frozen)
Volume
1-2 cc
Minimum Volume
1 cc
Container
Sodium Heparin tube (green-top)
Collection Instructions
Draw blood and separate plasma as soon as possible.
Storage Instructions
Store frozen at -20C. Can be stored for up to 7 days.