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HelpTest ID OXYWB Oxysterols, Blood
Ordering Guidance
Based on internal validation studies, this test using dried blood spots created from a whole blood specimen is less clinically sensitive and specific for diagnosing Niemann-Pick type C (NPC) (75% and 89%, respectively) than using plasma (98%). If there is a strong clinical suspicion for NPC, order OXNP / Oxysterols, Plasma.
This test is also available as a part of a panel, see HSMWB / Hepatosplenomegaly Panel, Blood. If this test (OXYWB) is ordered with either GPSYW / Glucopsychosine, Blood or CTXWB / Cerebrotendinous Xanthomatosis, Blood, the individual tests will be canceled and HSMWB ordered.
Specimen Required
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium heparin, lithium heparin) or yellow top (ACD B)
Specimen Volume: 1 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Reporting Name
Oxysterols, BSpecimen Type
Whole bloodSpecimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Refrigerated (preferred) | 72 hours |
| Ambient | 48 hours |
Report Available
3 to 7 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Investigating a possible diagnosis of acid sphingomyelinase deficiency, also known as Niemann-Pick disease type A or B, using dried blood spots created from a whole blood specimen
This test is not recommended for diagnosis of Niemann-Pick type C (NPC). If NPC is suspected, consider plasma oxysterols.
This test is not useful for the identification of carriers
Day(s) Performed
Tuesday, Thursday
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
Specimen Minimum Volume
0.25 mL
Reference Values
Cholestane-3-beta,5-alpha,6-beta-triol
Cutoff: ≤0.800 nmol/mL
Lyso-sphingomyelin
Cutoff: ≤0.100 nmol/mL
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Testing Algorithm
If the patient has abnormal newborn screening results for acid sphingomyelinase deficiency, also called Niemann-Pick type A or B disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)