Turnaround times
The quoted turnaround time is from sample receipt in the laboratory, to results authorisation in the Laboratory Information Management system. The times do not include transport of specimen to the laboratory or the administrative process to print and post/email reports. Service users must allow for transport and reporting time when ordering tests.
Clinical background:
Plasmalogens are ether phospholipids synthesized by peroxisomes which are important constituents of cell membranes and myelin.Low levels are expected in:1. disorders of Peroxisomal Biogenesis -Zellweger Spectrum disorders (Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease) -Rhizomelic chondrodysplasia punctata (RCDP) type 1 + 4.
2. single enzyme disorders of ether phospholipid biosynthesis-RCDP type 2 + 3-Fatty acyl-CoA reductase (FAR1) deficiency VLCFA, phytanic and pristanic acid all expected to be normal in these conditions.Plasmalogens analysis is a useful test as a follow up to abnormal VLCFA result to distinguish a ZSD (low plasmalogens) from a β-oxidation defect (normal plasmalogens).It is also useful when there is clinical suspicion of RCDP types 1 – 4 or FAR1 deficiency as it may be the only biochemical abnormality.
Specimen container paediatric:
EDTA whole blood
Specimen container adult:
EDTA whole blood
Minimum volume paediatric:
2 mL
Minimum volume adult:
2 mL
Special requirements:
Samples must be sent to the referral laboratory to arrive within 72 hours of collection.
Sample stability:
4oC up to 2 days
Transport requirements:
First class post
Interpretation:
Provided on report.
Reference ranges:
% red cell C16-DMA:C16 3 to 15% red cell C18-DMA:C18 3 to 21