Plasmalogens

Clinical Chemistry

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Description

For the confirmation of diagnosis or further characterisation of patients with probable Peroxisomal Biogenesis disorders or Rhizomelic Chondrodysplasia Punctata (RCDP) or FAR1 defect. Please provide information on clinical context and information on VLCFA results in order to facilitate appropriate interpretation.

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Sample Type

Red blood cell pellet: 2mLEDTA red blood cells

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Turnaround Time

3 to 6 weeks

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External Notes

Spin and take off plasma (including buffy coat), wash x3 with equal colume normal saline and store at -20oC (washed RBC only) and send frozen (dry ice). For more information contact Sheffield Children's Hospital Laboratory on (0114) 271 7445.

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Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.