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HelpTest ID HSMP Hepatosplenomegaly Panel, Plasma
Advisory Information
This test should not be used for monitoring of patients with confirmed diagnoses. If a physician is requesting testing for monitoring purposes, see:
CTXP / Cerebrotendinous Xanthomatosis, Plasma
GPSYP / Glucopsychosine, Plasma
OXNP / Oxysterols, Plasma
Specimen Required
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, taking care not to disturb or transfer the buffy coat layer.
3. Send frozen
Forms
If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism 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 suitable 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, and C.
Patients with abnormal results should have follow-up enzymatic or molecular testing for confirmation of diagnosis.
Conditions Identifiable By Method
|
Disorder |
Onset |
Analyte detected |
Gene |
Incidence |
|
Cerebrotendinous xanthomatosis (CTX)
|
Infancy-adulthood |
7-Alpha-hydroxy-4-cholesten-3-one (7a-C4) 7-alpha,12-alpha-dihydroxycholest-4-en-3-one (7a12aC4) |
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 age 2 to 4. Patients with Type 3 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) lyso-sphingomyelin 509 (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 age 3. 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) 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. |
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Patients with testing indicative of one of the above disorders should have follow-up enzymatic of molecular testing for confirmation of diagnosis.
Reference Values
CHOLESTANE-3-BETA, 5-ALPHA, 6-BETA-TRIOL
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 (7a-C4)
Cutoff: ≤0.300 nmol/mL
7-ALPHA,12-ALPHA-DIHYDROXYCHOLEST-4-en-3-ONE (7a12aC4)
Cutoff: ≤0.100 nmol/mL
Interpretation
An elevation of 7-alpha-hydroxy-4-cholesten-3-one (7a-C4) and 7-alpha,12-alpha-dihydroxycholest-4-en-3-one (7a12aC4) is strongly suggestive of cerebrotendinous xanthomatosis (CTX).
An elevation of glucopsychosine (GPSY) is indicative of Gaucher disease.
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).
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 Jan;55(1):146-154
2. Federico A, Dotti MT, Gallus GN: Cerebrotendinous xanthomatosis. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated April 14, 2016. Accessed November 20, 2020. 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 February 4, 2021. 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 Nov;91(11):1082-1089
5. Patterson M: Niemann-Pick disease type C. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated August 29, 2019. Accessed February 4, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1296/
Day(s) and Time(s) 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
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 |