Hepatosplenomegaly Panel, Blood
Use
This test is used as a component of the initial evaluation of a patient presenting with hepatosplenomegaly. It serves as a screening test for select lysosomal and lipid storage disorders such as cerebrotendinous xanthomatosis, Gaucher disease, and Niemann-Pick disease types A, B, and C. Hepatosplenomegaly often presents due to chronic hepatic dysfunction or abnormal storage of lipids and other analytes. Screening aids in narrowing possible conditions due to the broad phenotypic variability and similarity of clinical features across different disorders.
Special Instructions
Not provided.
Limitations
The test does not identify all causes of hepatosplenomegaly. While a positive result can strongly suggest a diagnosis, it needs confirmation by stand-alone biochemical or molecular assay. Conditions like Wolman disease or cholestatic biliary atresia might mimic Niemann-Pick disease type C. It also does not differentiate carriers.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 92744-2 - HepSplenMeg Pnl Bld
- 59462-2 - Clinical biochemist review
- 92756-6 - Chol-3b,5a,6b-triol Bld-sCnc
- 92748-3 - LSM Bld-sCnc
- 92751-7 - Glucopsychosine Bld-sCnc
- 92762-4 - 7a-OH-4-chol-3-one Bld-sCnc
- 92759-0 - 7a12aDiOHchol4en3one Bld-sCnc
- 18771-6 - Provider signing name
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
1 mL
Minimum Volume
0.25 mL
Container
Lavender top (EDTA), Green top (sodium heparin, lithium heparin), Yellow top (ACD B)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 72 hours |