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HelpTest ID: 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.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics 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 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, BSpecimen Type
Whole bloodSpecimen Minimum Volume
0.25 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| 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 presenting with hepatosplenomegaly who may have a lysosomal or lipid storage disorder.
The conditions detected in this assay are cerebrotendinous xanthomatosis, Gaucher disease, and Niemann-Pick (NP) disease types A, B (also known as acid sphingomyelinase deficiency), and, with a lower sensitivity and specificity, NPC.
Patients with abnormal results should have follow-up enzymatic or molecular testing for confirmation of diagnosis.
Table. Conditions Identifiable by Method
|
Disorder |
Onset |
Analyte detected |
Gene |
Incidence |
|
Cerebrotendinous xanthomatosis (CTX) |
Infancy - adulthood |
7-Alpha-hydroxy-4-cholesten-3-one (7aC4) 7-Alpha,12-aplha-dihydroxycholest-4-en-3-one (12aC4) |
CYP27A1 |
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) |
GBA |
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 2 to 4 years of age. Patients with type III may have a less progressive phenotype and may survive into adulthood. |
||||
|
Niemann-Pick type A/B (NPA, NPB) |
NPA: neonatal NPB: birth-adulthood |
Lyso-sphingomyelin (LSM) LSM 509 |
SMPD1 |
Combined incidence 1 in 250,000 |
|
Phenotype: NPA: Feeding difficulties, jaundice, hepatosplenomegaly, neurologic deterioration, lung disease, hearing and vision impairment, cherry red macula, death usually by 3 years of age. NPB: Mainly limited to visceral symptoms; hepatosplenomegaly, stable liver dysfunction, pulmonary compromise, osteopenia. |
||||
|
Niemann-Pick type C (NPC) |
Variable (perinatal-adulthood) |
Cholestane-3 beta, 5 alpha, 6 beta-triol (COT) 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. |
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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 daysTest 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 |
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