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Oxysterols, BS
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000597414.4
METABOLIC DISEASEINHERITED DISEASEIMMUNOLOGY ... View more
Last updated in GTR: 2024-04-25
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Monitoring
Conditions (2): Help
Niemann-Pick disease, type A; Niemann-Pick disease, type B
Analytes (1): Help
Cholestane-3-beta, 5-alpha, 6-beta-triol (COT), Lyso-sphingomyelin (LSM)
Methods (1): Help
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
Investigation of possible diagnosis of Niemann-Pick disease types A and …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
OXYBS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/overview/63147#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Deodato F, Boenzi S, Taurisano R, Semeraro M, Sacchetti E, Carrozzo R, Dionisi-Vici C. The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency. Clin Chim Acta. 2018;486:387-394. doi:10.1016/j.cca.2018.08.039. Epub 2018 Aug 25. PMID: 30153451.

Target population: Help
Investigation of possible diagnosis of Niemann-Pick disease types A and Bin blood spot specimens.   This test is not suitable for the identification of carriers.
View citations (3)
  • Wasserstein MP, Schuchman EH. Acid Sphingomyelinase Deficiency. 2006 Dec 07 [updated 2023 Apr 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301544.
  • OMIM: 257200 Niemann-Pick Disease Type A. Updated October 19, 2016. Accessed February 3, 2021. Available at www.omim.org/entry/257200?search=257200&highlight=257200
  • OMIM: 607616 Niemann-Pick Disease Type B. Updated April 4, 2019. Accessed February 3, 2021. Available at www.omim.org/entry/607616?search=607616&highlight=607616
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
A 3-mm dried blood spot is extracted with internal standard. The extract is subjected to liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis. The MS/MS is operated in the multiple reaction monitoring positive mode to follow the precursor to product species transitions for each analyte and internal standard. The ratio of the … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 100%. Intra assay precision was performed at 2 levels: CV results ranged from 10% to 21% (N=20 each). Inter assay precision was performed at 2 levels: CV results ranged from 20% to 25% (N=20 each). The analytical measurement range is analyte … View more
Assay limitations: Help
Nonspecific neonatal cholestasis may result in elevations of cholestane-3-beta, 5-alpha, 6-beta-triol and lyso-sphingomyelin 509 (LSM 509).   This test may pick up cases of Niemann-Pick type C, however a normal result in dried blood spots does not rule it out.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

Description of PT method: Help
Intra-laboratory alternative assessment of performance through quality control or patient blind testing

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Citations to support internal test validation method, Citations for Analytical validity, PT Provider, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.