Test Catalog

Test ID: HSMBS    
Hepatosplenomegaly Panel, Blood Spot

Useful For Suggests clinical disorders or settings where the test may be helpful

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly using dried blood spot specimens


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.


This is a screening test for a select number of lysosomal and lipid storage disorders, including cerebrotendinous xanthomatosis (CTX), Gaucher disease, and Niemann-Pick diseases types A, B, and C.


The above conditions may all have hepatosplenomegaly as a presenting sign, making this test a helpful component of a patient’s initial evaluation.


Although Fabry disease does not have hepatosplenomegaly as a clinical symptom, it can be identified by this assay as the compound, globotriaosylsphingosine, is detected.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Hepatosplenomegaly Panel, BS

Aliases Lists additional common names for a test, as an aid in searching

Acid Schingomyelinase Deficiency
ASM Deficiency
Niemann-Pick type A
Niemann-Pick type B
Niemann-Pick type C
Cerebral cholesterinosis
Cerebrotendinous cholesterosis
Van Bogaert-Scherer-Epstein syndrome
Sterol 27-hydrolase deficiency
Beta glucosidase deficiency
Fabry disease