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Test ID OXNP Oxysterols, Plasma

Useful For

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

 

Monitoring of individuals with Niemann-Pick type C disease

 

This test is not useful for the identification of carriers.

Method Name

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

Reporting Name

Oxysterols, P

Specimen Type

Plasma


Specimen Required


Collection Container/Tube:

Preferred: Lavender top (EDTA)

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

Submission Container/Tube: Plastic vial

Specimen Volume: 0.3 mL

Collection Instructions:

1. Centrifuge at 4° C.

2. Aliquot plasma into plastic vial, taking care not to disturb the buffy coat layer.

3. Send frozen.


Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen 65 days

Reference Values

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

Cutoff: ≤0.070 nmol/mL

 

7-KETOCHOLESTEROL

Cutoff: ≤0.100 nmol/mL

 

LYSO SPHINGOMYELIN

Cutoff :≤ 0.100 nmol/mL

Day(s) Performed

Tuesday, Thursday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
OXNP Oxysterols, P 92740-0

 

Result ID Test Result Name Result LOINC Value
36433 Interpretation (OXNP) 59462-2
36430 Cholestane-3beta,5alpha,6beta-triol 92755-8
36431 7-Ketocholesterol 92764-0
36432 Lyso-sphingomyelin 92747-5
36434 Reviewed By 18771-6

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.

Report Available

2 to 7 days

NY State Approved

Yes

Forms

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