Newcastle Laboratories

Red cell plasmalogens

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 Biogenes...

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. 

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Test Details

  • Discipline:

    Biochemistry

    Biochemistry

  • Specimen Container Adult:

    EDTA whole blood 

    EDTA whole blood 

  • Specimen Container Paediatric:

    EDTA whole blood 

    EDTA whole blood 

  • Minimum Volume Adult:

    2 mL

    2 mL

  • Minimum Volume Paediatric:

    2 mL

    2 mL

  • Special Requirement:

    Samples must be sent to the referral laboratory to arrive within 72 hours of collection.

    Samples must be sent to the referral laboratory to arrive within 72 hours of collection.

  • Sample Stability:

    4oC up to 2 days

    4oC up to 2 days

  • Transport Requirements:

    First class post

    First class post

  • Interpretation:

    Provided on report.

    Provided on report.

  • Reference Ranges:

    % red cell C16-DMA:C16  3 – 15

    % red cell C18-DMA:C18  3 - 21

    % red cell C16-DMA:C16  3 – 15

    % red cell C18-DMA:C18  3 - 21

  • Routine Contact Name:

    Duty Biochemist

  • Routine Telephone:

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

  • Routine Email:

  • Specialist Test:

    Yes

    Yes

  • Specialist Contact Name:

    Metabolic Clinical Scientist

    Metabolic Clinical Scientist

  • Specialist Telephone:

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

  • Specialist Email:

Availability:

Sample sent to an external laboratory for analysis

Turn Around:

10 weeks

Send To:

Department of Blood Sciences

Level 3
Leazes Wing
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP

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