Sign in →

Test 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, P

Specimen Type

Plasma

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time
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.

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: 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

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.

 

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&sectionid=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 and Thursday 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 In Process

 

Result ID Test Result Name Result LOINC Value
601542 Interpretation (HSMP) 59462-2
601536 Cholestane-3beta,5alpha,6beta-triol In Process
601537 7-Ketocholesterol In Process
601538 Lyso-sphingomyelin In Process
601539 Glucopsychosine In Process
601540 7a-hydroxy-4-cholesten-3-one In Process
601541 7a,12a-dihydroxycholest-4-en-3-one In Process
601543 Reviewed By 18771-6
Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical