Fatty Acid Profile, Comprehensive (C8-C26), Plasma
Use
This test is useful for monitoring patients undergoing diet therapy for mitochondrial or peroxisomal disorders, which might induce essential fatty acid deficiency due to restricted fat intake. It is also applicable for monitoring the treatment of essential fatty acid deficiency and the response to provocative tests like fasting or loading tests. The test provides a comprehensive profile regarding mitochondrial and peroxisomal fatty acid metabolism and the nutritional status of the patient.
Special Instructions
This test is not recommended as the initial screening test for evaluating potential peroxisomal disorders, single-enzyme defects of peroxisomal metabolism such as X-linked adrenoleukodystrophy, or peroxisomal biogenesis disorders. For those, the preferred tests are POXP / Fatty Acid Profile, Peroxisomal (C22-C26), Plasma or POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum. Patient age, treatment information, family history, and tentative diagnosis should be included when submitting the test.
Limitations
For nutritional assessment, a 12-hour fasting period is required. However, prolonged fasting is contraindicated for patients with suspected fatty acid oxidation disorders. Improper specimen collection and handling, or inappropriate test selection, may lead to diagnostic confusion. Elevated levels of certain fatty acids may suggest fatty acid oxidation disorders or peroxisomal disorders. The test does not diagnose such conditions definitively, which may require further confirmatory testing.
New York Approved
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
LOINC Codes
- 43674-1
- 35145-2
- 35147-8
- 35146-0
- 35151-0
- 35150-2
- 35148-6
- 35158-5
- 35157-7
- 35154-4
- 35155-1
- 35162-7
- 35161-9
- 35163-5
- 35164-3
- 35165-0
- 35166-8
- 35167-6
- 35149-4
- 35173-4
- 35168-4
- 35172-6
- 35171-8
- 35169-2
- 35174-2
- 35181-7
- 35180-9
- 35182-5
- 35160-1
- 30194-5
- 35170-0
- 30195-2
- 33036-5
- 30197-8
- 22761-1
- 22671-2
- 35411-8
- 35175-9
- 35176-7
- 35177-5
- 35178-3
- 35179-1
- 24461-6
- 59462-2
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.5 mL
Minimum Volume
0.15 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot plasma into a plastic vial.
Patient Preparation
Patient must fast for 12 hours, and not consume alcohol for 24 hours prior. For patients with suspected fatty acid oxidation disorder, collect as close to the patient's next scheduled meal as possible.
Causes for Rejection
Gross lipemia will cause rejection of the specimen.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 72 hours |
| Frozen | 92 days |