Plasmalogens, Blood
Use
This test is useful for diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency. It helps evaluate patients with abnormal newborn screening results for X-linked adrenoleukodystrophy who may have a different type of peroxisomal disorder and aids in assessing peroxisomal function.
Special Instructions
If peroxisomal biogenesis disorders are suspected, additional tests for very long chain fatty acids, bile acids, and pipecolic acid are recommended. The specimen must be collected either prior to or 6 weeks after a blood transfusion. A Biochemical Genetics Patient Information form is recommended but not required for submission with the specimen.
Limitations
Test results in erythrocytes are invalid following a blood transfusion; specimen collection should be before or 6 weeks after transfusion. Diagnosis through testing does not differentiate genetic from non-genetic causes; confirmatory genetic testing is recommended.
New York Approved
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
LOINC Codes
- 74634-7
- 104681-2
- 104680-4
- 104679-6
- 104677-0
- 104678-8
- 42349-1
- 18771-6
- 59462-2
Result Turnaround Time
3-9 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
3 mL
Container
Lavender top (EDTA) tube; Green top (sodium or lithium heparin) or yellow top (ACD solution A or B) are acceptable
Collection Instructions
Send specimen in original tube. Do not aliquot.
Patient Preparation
Specimen must be collected either prior to or 6 weeks after a blood transfusion.
Storage Instructions
Whole blood should be sent refrigerated.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 14 days |