Plasmalogens, Blood Spot
Use
This test is significant for diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP). It is also used to evaluate patients with abnormal newborn screen results for X-linked adrenoleukodystrophy who might have a different peroxisomal disorder and aids in the assessment of peroxisomal function.
Special Instructions
Not provided.
Limitations
The results of testing performed in erythrocytes are invalid following a transfusion; therefore, collect specimen either prior to or 6 weeks after a blood transfusion. Incorrect collection or submission of specimens that show serum rings, have multiple layers, or are insufficient or on unapproved filter papers will result in rejection.
New York Approved
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
C16:0 Plasmalogen
AnalyteC18:0 Plasmalogen
AnalyteC18:1 Plasmalogen
Analyte
LOINC Codes
- 104687-9 - DMA Pnl DBS
- 104682-0 - DMA 16:0 DBS-mCnc
- 104683-8 - DMA 18:0 DBS-mCnc
- 104684-6 - DMA 18:1 DBS-mCnc
- 104685-3 - DMA 16:0/C16:0 DBS
- 104686-1 - DMA 18:0/C18:0 DBS
- 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
Dried Blood Spot
Volume
2 Blood spots
Minimum Volume
1 Blood spot
Container
Blood spot collection card (Preferred); Local newborn screening card, PerkinElmer 226 filter paper, Munktell filter paper, Whatman Protein Saver 903 paper
Collection Instructions
Blood must be collected either prior to or 6 weeks after a blood transfusion. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours. Do not expose specimen to heat or direct sunlight. Do not stack wet specimens. Keep specimen dry.
Patient Preparation
Specimen must be collected either prior to or 6 weeks after a blood transfusion.
Causes for Rejection
Shows serum rings, has multiple layers, insufficient specimen, unapproved filter papers
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 90 days |
| Refrigerated | 90 days |
| Frozen | 90 days |