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Test Code OXYWB Oxysterols, Blood


Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin, lithium heparin) or yellow top (ACD B)

Specimen Volume: 1 mL


Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

Useful For

Investigation of possible diagnoses of Niemann-Pick disease types A, B, or C in blood spot specimens

 

Monitoring of individuals with NPC disease

 

This test is not suitable for the identification of carriers.

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

Oxysterols, B

Specimen Type

Whole blood

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 72 hours
  Ambient  48 hours

Reference Values

CHOLESTANE-3-BETA, 5-ALPHA, 6-BETA-TRIOL

Cutoff: ≤0.800 nmol/mL

 

LYSO-SPHINGOMYELIN

Cutoff: ≤0.100 nmol/mL

Day(s) and Time(s) Performed

Tuesday; 8 a.m.; samples must be received in the lab by 4 p.m. the day before testing is performed to allow samples to be spotted on filter paper and dried.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
OXYWB Oxysterols, B 92738-4

 

Result ID Test Result Name Result LOINC Value
BA4354 Interpretation (OXYWB) 59462-2
BA4352 Cholestane-3beta,5alpha,6beta-triol 92756-6
BA4353 Lyso-sphingomyelin 92748-3
BA4355 Reviewed By 18771-6