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HelpTest Code HSMWB Hepatosplenomegaly Panel, Blood
Ordering Guidance
This test should not be used for monitoring patients with confirmed diagnoses. If the testing requested is for monitoring purposes, see:
-CTXWB / Cerebrotendinous Xanthomatosis, Blood
-GPSYW / Glucopsychosine, Blood
-OXYWB / Oxysterols, Blood
This test's clinical sensitivity and specificity for the identification of Niemann-Pick type C (NPC) is 75% and 89%, respectively. If NPC is strongly suspected, the recommended test is HSMP / Hepatosplenomegaly Panel, Plasma.
Specimen Required
Collection Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium heparin, lithium heparin), yellow top (ACD B)
Specimen Volume: 1 mL
Collection Instructions: Send whole blood specimen in original vial. Do not aliquot.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
As a component of the initial evaluation of a patient presenting with hepatosplenomegaly
This test is not useful for the identification of carriers.
This test should not be used as a monitoring for patients with confirmed diagnoses.
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Hepatosplenomegaly Panel, BSpecimen Type
Whole bloodSpecimen Minimum Volume
0.25 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 72 hours | |
| Ambient | 48 hours |
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
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 (NP) disease types A, B (also known as acid sphingomyelinase deficiency), and, with a lower sensitivity and specificity, NPC.
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 (7aC4) 7-Alpha,12-aplha-dihydroxycholest-4-en-3-one (12aC4) |
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 Fabry disease may also be identified by this assay. The glycosphingolipid, globotriaosylsphingosine (LGb3), may be elevated in symptomatic patients and supports a diagnosis of Fabry disease. Normal values of LGb3 do not rule out Fabry disease. Patients with Fabry disease do not have hepatosplenomegaly as an accompanying feature.
Reference Values
CHOLESTANE-3-BETA,5-ALPHA,6-BETA-TRIOL
Cutoff: ≤0.800 nmol/mL
LYSO-SPHINGOMYELIN
Cutoff: ≤0.100 nmol/mL
GLUCOPSYCHOSINE
Cutoff: ≤0.040 nmol/mL
7-ALPHA-HYDROXY-4-CHOLESTEN-3-ONE (7aC4)
Cutoff: ≤0.750 nmol/mL
7-ALPHA,12-ALPAH-DIHYDROXYCHOLEST-4-en-3-ONE (12aC4)
Cutoff: ≤0.250 nmol/mL
GLOBOTRIAOSYLSPHINGOSINE
Cutoff: ≤0.034 nmol/mL
Interpretation
An elevation of 7-alpha-hydroxy-4-cholesten-3-one (7aC4) and 7-alpha,12-alpha-dihydroxycholest-4-en-3-one (12aC4) is strongly suggestive of cerebrotendinous xanthomatosis.
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.
An elevation of glucopsychosine is indicative of Gaucher disease.
Cautions
Patients with Wolman disease or cholestatic biliary atresia may have a profile similar to Niemann-Pick disease type C.
Patients with bile acid malabsorption or ileal resection may have elevations of 7-alpha-hydroxy-4-cholesten-3-one (7aC4).
This test does not identify all causes of hepatosplenomegaly.
A positive test result is strongly suggestive of a diagnosis but needs follow-up by stand-alone biochemical or molecular assay.
Day(s) Performed
Tuesday
Report Available
3 to 9 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test 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 |
|---|---|---|
| HSMWB | Hepatosplenomegaly Panel, B | 92744-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 601534 | Interpretation (HSMWB) | 59462-2 |
| 601528 | Cholestane-3beta,5alpha,6beta-triol | 92756-6 |
| 601529 | Lyso-sphingomyelin | 92748-3 |
| 601530 | Glucopsychosine | 92751-7 |
| 601531 | 7a-hydroxy-4-cholesten-3-one | 92762-4 |
| 601532 | 7a,12a-dihydroxycholest-4-en-3-one | 92759-0 |
| 601533 | Globotriaosylsphingosine | 92753-3 |
| 601535 | Reviewed By | 18771-6 |