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HelpTest Code OXNP Oxysterols, Plasma
Useful For
Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using plasma specimens
Monitoring of individuals with Niemann-Pick type C disease
This test is not useful for the identification of carriers.
Reporting Name
Oxysterols, PSpecimen Type
PlasmaOrdering Guidance
This test is also available as a part of a panel; see HSMP / Hepatosplenomegaly Panel, Plasma. If this test (OXNP) is ordered with either GPSYP / Glucopsychosine, Plasma or CTXP / Cerebrotendinous Xanthomatosis, Plasma, the individual tests will be canceled and HSMP ordered.
Specimen Required
Supplies: Sarstedt Aliquot Tube 5 mL (T914)
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. Do not 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
Report Available
3 to 7 daysPerforming 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. It has not been cleared or approved by the US Food and Drug Administration.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 |
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Special Instructions
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Testing Algorithm
For more information see Newborn Screen Follow-up for Acid Sphingomyelinase Deficiency
If the patient has abnormal newborn screening results for Niemann- Pick disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)