Test Catalog

Test ID: HSMWB    
Hepatosplenomegaly Panel, Blood

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

Highlights

This is a screening test for a select number of lysosomal and lipid storage disorders, including cerebrotendinous xanthomatosis, 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.

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.

Yes

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

Hepatosplenomegaly Panel, B

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
Ketosterols
Beta glucosidase deficiency
Fabry disease