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Test Code OXYWB Oxysterols, Blood


Ordering Guidance


This test's clinical sensitivity and specificity for the identification of Niemann-Pick type C (NPC) is 75% and 89%, respectively. If NPC is strongly suspected, the recommended test is 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 vial. Do not aliquot.


Useful For

Investigating a possible diagnosis of Niemann-Pick disease type A, B, or C using whole blood 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, 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

Interpretation

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

 

An elevation of lyso-sphingomyelin (LSM) is highly suggestive of Niemann-Pick disease type A or B (NPA or NPB) disease.

 

An elevation LSM 509 is suggestive of NPA, NPB, or NPC 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 June 10, 2024. Available at www.acmg.net/PDFLibrary/Niemann-Pick.pdf

2. Wasserstein MP, Schuchman EH. Acid sphingomyelinase deficiency. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews [Internet]. University of Washington, Seattle; 2006. Updated February 25, 2021. Accessed December 12, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1370/

3. Patterson M: Niemann-Pick disease type C. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated December 10, 2020. Accessed December 12, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1296/

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

5. Hollack CEM, de Sonnaville ESV, 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 Nov;107(3):526-533

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

7. Geberhiwot T, Moro A, Dardis A, et al; International Niemann-Pick Disease Registry (INPDR): Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6;13(1):50

Day(s) Performed

Tuesday; Specimens must be received by Monday for preanalytical processing

Report Available

3 to 9 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 Niemann- Pick disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)