GTR Test Accession:
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GTR000603784.2
Last updated in GTR: 2024-04-25
View version history
GTR000603784.2, last updated: 2024-04-25
GTR000603784.1, last updated: 2023-01-06
Last annual review date for the lab: 2024-05-28
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At a Glance
Test purpose:
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Screening
Conditions (5):
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Analytes (1):
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7-alpha-hydroxy-4-cholesten-3-one (7a-C4) and 7-alpha,12-alpha-dihydroxycholest-4-en-3-one (7a12aC4), Glucopsychosine, Cholestane-3-beta, 5-alpha, 6-beta-triol (COT), Lyso-sphingomyelin (LSM), Lyso-sphingomyelin 509 (LSM 509)
Methods (1):
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Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
As a component of the initial evaluation of a patient …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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HSMBS
Specimen Source:
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- Dried blood spot (DBS) card
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Lab contact:
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Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy:
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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:
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https://www.mayocliniclabs.com/test-catalog/overview/601519#Specimen
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 5
Condition/Phenotype | Identifier |
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Test Targets
Analytes
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Total analytes: 1
Analyte | Associated Condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Screening
Clinical utility:
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Target population:
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As a component of the initial evaluation of a patient presenting with hepatosplenomegaly.
This test is not suitable for the identification of carriers.
This test should not be used as a monitoring tool for patients with confirmed diagnoses.
View citations (4)
- Patterson M. Niemann-Pick Disease Type C. 2000 Jan 26 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301473.
- DeBarber AE, Luo J, Star-Weinstock M, Purkayastha S, Geraghty MT, Chiang JP, Merkens LS, Pappu AS, Steiner RD. A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. J Lipid Res. 2014;55(1):146-54. doi:10.1194/jlr.P043273. Epub 2013 Nov 02. PMID: 24186955.
- Murugesan V, Chuang WL, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol. 2016;91(11):1082-1089. doi:10.1002/ajh.24491. Epub 2016 Aug 08. PMID: 27441734.
- S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed February 4, 2021. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225546056&bookid=2709
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:
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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 …
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Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Recovery was used to assess accuracy; mean recovery was 106%. Intra assay precision was performed at 3 levels: CV results ranged from 10%-49% where higher CVs were obtained for physiologically low analyte concentrations near zero (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 12%-113% …
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Assay limitations:
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Patients with Wolman disease or cholestatic biliary atresia may have a profile similar to Niemann-Pick disease type C. Patients with bile acid malabsorption or ileal resection may have elevations of 7-alpha-hydroxy-4-cholesten-3-one. This test does not identify all causes of hepatosplenomegaly. A positive test result is strongly suggestive of a diagnosis …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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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.
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:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.