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Test Code 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.


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

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
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

Interpretation

An elevation of lyso-sphingomyelin is highly suggestive of acid sphingomyelinase deficiency, also called Niemann-Pick type A or B disease.

 

An elevation of cholestane-3-beta, 5-alpha, 6-beta-triol is highly suggestive of Niemann-Pick type C disease.

Clinical Reference

1. Newborn Screening ACT Sheet [Decreased acid sphingomyelinase] Acid Sphingomyelinase Deficiency (ASMD). American College of Medical Genetics and Genomics; 2022. Revised May 2022. Accessed December 16, 2025. Available at www.acmg.net/PDFLibrary/Niemann-Pick.pdf

2. Wasserstein MP, Schuchman EH. Acid sphingomyelinase deficiency. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2006. Updated April 27, 2023. Accessed December 16, 2025. Available at www.ncbi.nlm.nih.gov/books/NBK1370/

3. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S48-S57. doi:10.5414/cpp47048

4. Hollak CE, de Sonnaville ES, Cassiman D, et al. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab. 2012;107(3):526-533

5. Wasserstein M, Dionisi-Vici C, Giugliani R, et al. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Mol Genet Metab. 2019;126(2):98-105

Day(s) Performed

Tuesday, Thursday

Report Available

3 to 7 days

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. 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
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

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)