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Plasmalogens
minimum sample volume required ~ 4ml
Tube type: EDTA
Special instructions
Sent away
to Sheffield Children's Hospital
Reference range
C16/Palmitate: 0.082 - 0.14, C18/Stearate: 0.176 - 0.28
Units
No units. Expressed as ratios
Turnaround Time
42
days
Department: Biochemistry
Clinical Application
Plasmalogens are used in the confirmation of diagnosis/characterisation of patients with probable Peroxisomal Biogenesis disorders, or Rhizomelic Chondrodysplasia (RCDP), or a FAR1 defect.
Webpage created: April 2025.
