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Test Code HSMP Hepatosplenomegaly Panel, Plasma


Ordering Guidance


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

CTXP / Cerebrotendinous Xanthomatosis, Plasma

GPSYP / Glucopsychosine, Plasma

OXNP / Oxysterols, Plasma



Specimen Required


Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Collection Container/Tube:

Preferred: Lavender top (EDTA)

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

Submission Container/Tube: Plastic vial

Specimen Volume: 0.3 mL

Collection Instructions:

1. Centrifuge at 4° C, if possible

2. Aliquot plasma into plastic vial. Do not disturb or transfer the buffy coat layer.

3. Send frozen


Useful For

As a component to the initial evaluation of a patient presenting with hepatosplenomegaly, using plasma specimens

 

This test is not useful for the identification of carriers.

 

This test should not be used as a monitoring tool for patients with confirmed diagnoses.

Method Name

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

Reporting Name

Hepatosplenomegaly Panel, P

Specimen Type

Plasma

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen 65 days

Reference Values

Cholestane -3-beta, 5-alpha, 6-beta-troil

Cutoff: ≤0.070 nmol/mL

 

7-Ketocholesterol

Cutoff: ≤0.100 nmol/mL

 

Lyso-sphingomyelin Cutoff: ≤0.100 nmol/mL

 

Glucopsychosine Cutoff: ≤0.003 nmol/mL

 

7-Alpha-hydroxy-4-cholesten-3-one Cutoff: ≤0.300 nmol/mL

 

7-Alpha,12-alpha-dihydroxycholest-4-en-3-one

Cutoff: ≤0.100 nmol/mL

Interpretation

An elevation of 7-alpha-hydroxy-4-cholesten-3-one (7a-C4) or 7-alpha,12-alpha-dihydroxycholest-4-en-3-one (7a12aC4) or both is strongly suggestive of cerebrotendinous xanthomatosis.

 

An elevation of glucopsychosine is indicative of Gaucher disease.

 

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

 

An elevation of cholestane-3-beta, 5-alpha, 6-beta-triol is highly suggestive of Niemann-Pick disease type C.

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(1):146-154

2. Federico A, Dotti MT, Gallus GN: Cerebrotendinous xanthomatosis. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated November 14. 2024. Accessed December 2, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1409/

3. Grabowski GA, Petsko GA, Phil D, Kolodny EH: Gaucher disease. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed December 2, 2024. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225546056

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. Wasserstein MP, Schuchman EH. Acid sphingomyelinase deficiency. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews [Internet]. University of Washington, Seattle; 2006. Updated April 27, 2023. Accessed December 2, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1370/

6.  Wasserstein M, Dionisi-Vici C, Giugliani R, et al. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Mol Genet Metab. 2019;126(2):98-105. doi:10.1016/j.ymgme.2018.11.014

7. Patterson M: Niemann-Pick disease type C. In: Adam MP, Everman DB, Mirzaa GM,et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000.Updated December 10, 2020. Accessed December 2, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1296/

8. Geberhiwot T, Moro A, Dardis A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018;13(1):50. Published 2018 Apr 6. doi:10.1186/s13023-018-0785-7

Day(s) Performed

Tuesday, Thursday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HSMP Hepatosplenomegaly Panel, P 92743-4

 

Result ID Test Result Name Result LOINC Value
601542 Interpretation (HSMP) 59462-2
601536 Cholestane-3beta,5alpha,6beta-triol 92755-8
601537 7-Ketocholesterol 92764-0
601538 Lyso-sphingomyelin 92747-5
601539 Glucopsychosine 92750-9
601540 7a-hydroxy-4-cholesten-3-one 92761-6
601541 7a,12a-dihydroxycholest-4-en-3-one 92758-2
601543 Reviewed By 18771-6