Plasma very long-chain fatty acids & phytanic acid

Clinical Utility:

This selected ion monitoring gas chromatography mass spectrometry (SIM-GCMS) quantitative test is diagnostic for peroxisomal disorders. Diseases Identified by this test

Specimen Types:

The only appropriate sample material is plasma separated quickly (within 1 hour) from the time of blood collection. The blood should be collected in EDTA tubes. Frozen plasma should be sent in a plastic tube by express mail with a coolant pack. The sample should reach the laboratory in less than 48 hours. Please avoid weekends (Thursday and Friday). Samples are stable for 24 hours at room temperature and for weeks at –20⁰C.

*NOTE: The patient should be fasted overnight (12-14 hours) before collecting the blood. If not, some results are equivocal, and there will be a need for repeat analysis at your expense.

Turn-around Time:

Routine: 15-21 days from receipt of sample

Stat: Not available

Report Format:

The result is given in a one-page report that details the patient information, date of sample, date of analysis and a result code, which could be one of three:

"NOT REMARKABLE" "QUESTIONABLE" "ABNORMAL"

Values obtained for C22, C24, C26, and the C24/C22 and C26/C22 ratios, and for phytanic acid will be provided. Interpretation of questionable or abnormal results will be provided. Recommendation for follow-up samples, or further tests, which are needed for confirmation, will be indicated.