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Test Code HSMWB Hepatosplenomegaly Panel, Blood


Ordering Guidance


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

-CTXWB / Cerebrotendinous Xanthomatosis, Blood

-GPSYW / Glucopsychosine, Blood

-OXYWB / Oxysterols, Blood

 

This test's clinical sensitivity and specificity for the identification of Niemann-Pick type C (NPC) is 75% and 89%, respectively. If NPC is strongly suspected, the recommended test is HSMP / Hepatosplenomegaly Panel, Plasma.



Specimen Required


Collection Container/Tube:

Preferred: Lavender top (EDTA)

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

Specimen Volume: 1 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


Useful For

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly

 

This test is not useful for the identification of carriers.

 

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

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
Whole blood Refrigerated (preferred) 72 hours
  Ambient  48 hours

Reference Values

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

Cutoff: ≤0.800 nmol/mL

 

Lyso-sphingomyelin

Cutoff: ≤0.100 nmol/mL

 

Glucopsychosine

Cutoff: ≤0.040 nmol/mL

 

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

Cutoff: ≤0.750 nmol/mL

 

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

Cutoff: ≤0.250 nmol/mL

Interpretation

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.

 

An elevation particulary of lyso-sphingomyelin (LSM) 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 is highly suggestive of Niemann-Pick disease type C.

 

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: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated March 17, 2022. Accessed November 5, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1409/

3. Grabowski GA, Petsko GA, 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 November 5, 2024. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225546056&bookid=2709

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, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2006. Updated April 27, 2023. Accessed November 5, 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, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated December 10, 2020. Accessed November 5, 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

Report Available

3 to 9 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
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
601535 Reviewed By 18771-6