Hepatosplenomegaly Panel, Blood Spot
GTR Test Accession: Help GTR000603784.1
Last updated in GTR: 2023-01-06
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Niemann-Pick disease, type A; Cholestanol storage disease; Gaucher disease; ...
7-alpha-hydroxy-4-cholesten-3-one (7a-C4) and 7-alpha,12-alpha-dihydroxycholest-4-en-3-one (7a12aC4); Cholestane-3-beta, 5-alpha, 6-beta-triol (COT), Lyso-sphingomyelin (LSM), Lyso-sphingomyelin 509 (LSM 509); Glucopsychosine
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
As a component of the initial evaluation of a patient …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
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
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
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:
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 3
Analyte Associated Condition
Total methods: 1
Method Category Help
Test method Help
Instrument *
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Target population: Help
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:
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 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% … View more
Assay limitations: Help
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 … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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