Hepatosplenomegaly Panel, Plasma
Use
This test is used as a component for the initial evaluation of patients presenting with hepatosplenomegaly. It is a screening test for various lysosomal and lipid storage disorders such as cerebrotendinous xanthomatosis, Gaucher disease, and Niemann-Pick disease types A, B, and C, all of which may present hepatosplenomegaly as a symptom. Patients with abnormal results should undergo further enzymatic or molecular testing for confirmation of diagnosis.
Special Instructions
Not provided.
Limitations
The test is not useful for the identification of carriers and should not be used as a monitoring tool for confirmed diagnoses. It does not identify all causes of hepatosplenomegaly. Conditions such as Wolman disease or cholestatic biliary atresia may produce profiles similar to Niemann-Pick disease type C. Follow-up biochemical or molecular assays are necessary for confirmation of a positive result.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 92743-4 - HepSplenMeg Pnl SerPl
- 59462-2 - Clinical biochemist review
- 92755-8 - Chol-3b,5a,6b-triol SerPl-sCnc
- 92764-0 - 7-Ketochol SerPl-sCnc
- 92747-5 - LSM SerPl-sCnc
- 92750-9 - Glucopsychosine SerPl-sCnc
- 92761-6 - 7a-OH-4-chol-3-one SerPl-sCnc
- 92758-2 - 7a12aDiOHchol4en3one SerPl-sCnc
- 18771-6 - Provider signing name
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
0.3 mL
Minimum Volume
0.25 mL
Container
Plastic vial
Collection Instructions
Centrifuge at 4 degrees C, aliquot plasma into plastic vial, avoid transferring the buffy coat layer, and send frozen.
Stability Requirements
| Temperature | Period |
|---|---|
| Frozen | 65 days |