Specimen Collection

Test performed by: LabPLUS Support Services transport this to a 3rd party for testing

4 mL EDTA Blood

4 mL Heparin Blood
Reference Intervals

The reference interval will be provided with the result.

Turnaround Time: Between 6 weeks and 8 weeks
Diagnostic Use and Interpretation

The level of lyso-sphingomyelin-509 has been shown to be elevated in plasma from patients affected by Niemann-Pick disease Type C (NPC). This test is more sensitive and specific for the identification of NPC patients and therefore has replaced plasma oxysterols as first line testing, performed at Adelaide Women's & Children's (Giese et al, Orphanet Journal of Rare Diseases (2015) 10;78).

Contact Information

For further information contact laboratory: ext 22016 or via Lablink or,

contact the Metabolic Physician-on-call: 09 367 0000

Specimen Transport Instructions for Referring Laboratories

Collect EDTA or Heparin blood. Separate and freeze 1mL plasma (minimum 0.2mL).

Transport frozen to LabPlus.

Last updated at 09:22:24 30/01/2024