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HelpTest ID: 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
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
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, PSpecimen Type
PlasmaSpecimen Minimum Volume
0.25 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma | Frozen | 65 days |
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 disease types A, B (also known as acid sphingomyelinase deficiency), and C.
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 |
|
Cerebrotendinous xanthomatosis |
Infancy-adulthood |
7-Alpha-hydroxy-4-cholesten-3-one (7a-C4) 7-Alpha,12-alpha-dihydroxycholest-4-en-3-one (7a12aC4) |
CYP27A1 |
|
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 |
GBA1 |
|
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 |
|
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  LSM 509 |
NPC1 or NPC2 |
|
Phenotype: Variable clinical presentation; ataxia, vertical supranuclear gaze palsy, dystonia, progressive speech deterioration, seizures, ± hepatosplenomegaly. |
|||
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§ionid=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. Â 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 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 |
|---|---|---|
| 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 |
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