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Test ID: HSMWB Hepatosplenomegaly Panel, Blood

Advisory Information

This test should not be used for monitoring patients with confirmed diagnoses. If a physician is requesting testing for monitoring purposes, see:

-CTXWB / Cerebrotendinous Xanthomatosis, Blood

-GPSYW / Glucopsychosine, Blood

-OXYWB / Oxysterols, Blood

Specimen Required


Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin, lithium heparin) or yellow top (ACD B)

Specimen Volume: 1 mL


If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

Useful For

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 does not identify all causes of hepatosplenomegaly.

Method Name

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

Reporting Name

Hepatosplenomegaly Panel, B

Specimen Type

Whole blood

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 72 hours
  Ambient  48 hours

Clinical Information

Hepatosplenomegaly is a presenting or accompanying feature for many different inborn errors of metabolism. It typically is a consequence of chronic hepatic dysfunction or abnormal storage of lipids, sugars, or other improperly metabolized analytes due to a particular enzymatic deficiency. The diagnosis can occasionally be narrowed down by consideration of clinical symptoms, however, clinical diagnosis can be difficult due to similarity of clinical features across disorders as well as phenotypic variability. Therefore, screening tests can play an important role in the workup of a patient with hepatosplenomegaly and a suspected lysosomal or lipid storage disorder.


The conditions detected in this assay are cerebrotendinous xanthomatosis, Gaucher disease, and Niemann-Pick disease types A, B, and C.


Conditions Identifiable By Method Disorder


Analyte detected



Cerebrotendinous xanthomatosis (CTX)




Infancy - adulthood

7-Alpha-hydroxy-4-cholesten-3-one (7aC4)

7-alpha,12-aplha-dihydroxycholest-4-en-3-one (12aC4)


1 in 50,000

As high as 1 in 400 in Druze population.

Phenotype: early onset diarrhea, cataracts, tendon/cerebral xanthomas, osteoporosis, neuropsychological manifestations, liver disease/hepatosplenomegaly.

Gaucher disease

Type I: childhood/adult

Types II/III: neonatal-early childhood

Glucopsychosine (GPSY)


Type I:

1 in 30,000 to 1 in 100,000

Types II/III:

1 in 100,000

Phenotype: all types exhibit hepatosplenomegaly and hematological abnormalities.

Type I: organomegaly, thrombocytopenia, and bone pain. Absence of neurologic symptoms.

Types II/III: primary neurologic disease, developmental delay/regression, hepatosplenomegaly, lung disease. Patients with type II typically die by age 2-4.  Patients with type 3 may have a less progressive phenotype and may survive into adulthood. 

Niemann-Pick type


NPA: neonatal

NPB: birth-adulthood

Lyso-sphingomyelin (LSM)

lyso-sphingomyelin 509 (LSM 509)


Combined incidence

1 in 250,000


NPA: feeding difficulties, jaundice, hepatosplenomegaly, neurologic deterioration, lung disease, hearing and vision impairment, cherry red macula, death usually by age 3.

NPB: mainly limited to visceral symptoms; hepatosplenomegaly, stable liver dysfunction, pulmonary compromise, osteopenia.

Niemann-Pick type C



Cholestane-3 beta, 5 alpha, 6 beta-triol (COT)

lyso-sphingomyelin 509 (LSM 509)

NPC1 or NPC2

1 in 120,000 to 1 in 150,000

Phenotype: Variable clinical presentation. Ataxia, vertical supranuclear gaze palsy, dystonia, progressive speech deterioration, seizures, ± hepatosplenomegaly.


Patients with Fabry disease may also be identified by this assay.  The glycosphingolipid, globotriaosylsphingosine (LGb3), may be elevated in symptomatic patients and supports a diagnosis of Fabry disease. Normal values of LGb3 do not rule out Fabry disease. Patients with Fabry disease do not have hepatosplenomegaly as an accompanying feature. 


Patients with testing indicative of 1 of the above disorders should have follow-up enzymatic or molecular testing for confirmation of diagnosis.

Reference Values


Cutoff: ≤0.800 nmol/mL



Cutoff: ≤0.100 nmol/mL



Cutoff: ≤0.040 nmol/mL



Cutoff: ≤0.750 nmol/mL



Cutoff: ≤0.250 nmol/mL



Cutoff: ≤0.034 nmol/mL


An elevation of 7-alpha-hydroxy-4-cholesten-3-one (7aC4) and 7-alpha,12-alpha-dihydroxycholest-4-en-3-one (12aC4) is strongly suggestive of cerebrotendinous xanthomatosis (CTX).


An elevation of lyso-sphingomyelin (LSM) and lyso-sphingomyelin 509 (LSM 509) is highly suggestive of Niemann-Pick type A or B (NPA or NPB) disease.


An elevation of cholestane-3 beta, 5 alpha, 6 beta-triol (COT) lyso-sphingomyelin 509 (LSM 509) is highly suggestive of Niemann-Pick disease type C (NPC).


An elevation of glucopsychosine is indicative of Gaucher disease.

Clinical Reference

1. DeBarber AE, Luo J, Star-Weinstock M, et al: A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. J Lipid Res 2014;55:146-154

2. Federico A, Dotti MT, Gallus GN: Cerebrotendinous Xanthomatosis. In GeneReviews Edited by RA Pagon, MP Adam, HH Ardinger, et al. Updated 2016 Apr 14. University of Washington, Seattle. 1993-2017. Available at

3. Grabowski GA, Petsko GA, Kolodny EH, et al: Grabowski G.A., Petsko G.A., Kolodny E.H. Grabowski, Gregory A., et al.Gaucher disease. In The Online Metabolic and Molecular Bases of Inherited Disease. Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, McGraw-Hill, 2014. Accessed August 11, 2017. Available at

4. Murugeasan V, Chuan WL, Liu J, et al:  Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol 2016;91(11):1082-1089

5. Patterson M: Niemann-Pick disease type C. In GeneReviews. Edited by RA Pagon, MP Adam, HH Ardinger, et al. Accessed April 7, 2017. Available at

Day(s) and Time(s) Performed

Samples received Monday through Saturday; 4 p.m.; Sunday 1 p.m. will be prepared same day. 

Testing performed Tuesday; 8 a.m.

Analytic Time

2 days (not reported Saturday or Sunday)

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
HSMWB Hepatosplenomegaly Panel, B 92744-2


Result ID Test Result Name Result LOINC Value
601534 Interpretation (HSMWB) 59462-2
601528 Cholestane-3beta,5alpha,6beta-triol 92756-6
601529 Lyso-sphingomyelin 92748-3
601530 Glucopsychosine 92751-7
601531 7a-hydroxy-4-cholesten-3-one 92762-4
601532 7a,12a-dihydroxycholest-4-en-3-one 92759-0
601533 Globotriaosylsphingosine 92753-3
601535 Reviewed By 18771-6
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