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Test 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


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


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, P

Specimen Type

Plasma

Specimen 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

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 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.

 

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 .

 

An elevation of glucopsychosine is indicative of Gaucher disease.

 

An elevation of lyso-sphingomyelin (LSM) and LSM 509 is highly suggestive of Niemann-Pick type A or B disease.

 

An elevation of cholestane-3-beta, 5-alpha, 6-beta-triol and LSM 509 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 Jan;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 April 14, 2016. Accessed December 14, 2022. 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 14, 2022. 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. 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 February 25, 2021. Accessed December 14, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1370/

6. Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Mol Genet Metab. 2019 Feb;126(2):98-105

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 14, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1296/

8. Geberhiwot T, Moro A, Dardis A, et al; International Niemann-Pick Disease Registry (INPDR): Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6;13(1):50

Day(s) Performed

Tuesday, Thursday

Report Available

3 to 7 days

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 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
Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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