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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: Sodium heparin, lithium heparin, ACD B
Submission Container/Tube: Plastic vial
Specimen Volume: 0.3 mL
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
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 with hepatosplenomegaly and a suspected 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.
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. |
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|
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. |
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|
Niemann-Pick Type A/B |
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. |
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|
Niemann-Pick Type C |
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 2014:55:146-154
2. Federico A, Dotti MT, Gallus GN: Cerebrotendinous Xanthomatosis. In GeneReviews. Edited by RA Pagon, MP Adam, HH Ardinger, et al. University of Washington, Seattle. 1993-2017. 2003 Jul 16. Available at www.ncbi.nlm.nih.gov/books/NBK1409/
3. Grabowski GA, Petsko GA, Kolodny EH. et al: Gaucher Disease. In The Online Metabolic and Molecular Bases of Inherited Disease. Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, McGraw-Hill, 2014. Accessed August 11, 2017. Available at http://ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62643884
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. Patterson M: Niemann-Pick disease type C. In GeneReviews. Edited by RA Pagon, MP Adam, HH Ardinger, et al. Retrieved April 7, 2017. 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 |