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
Not provided.
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 - DMA Pnl RBC
- 104681-2 - DMA 16:0 RBC-mCnc
- 104680-4 - DMA 18:0 RBC-mCnc
- 104679-6 - DMA 18:1 RBC-mCnc
- 104677-0 - DMA 16:0/C16:0 RBC
- 104678-8 - DMA 18:0/C18:0 RBC
- 42349-1
- 18771-6 - Provider signing name
- 59462-2 - Clinical biochemist review
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 |