Hepatosplenomegaly Panel, Blood Spot
Use
This test is useful as a screening tool for specific lysosomal and lipid storage disorders, such as cerebrotendinous xanthomatosis, Gaucher disease, and Niemann-Pick (NP) disease types A, B, and C. These conditions are often associated with hepatosplenomegaly. The test helps in the initial evaluation of patients presenting with this symptom, identifying abnormal storage of lipids or other analytes due to enzymatic deficiencies.
Special Instructions
The test should not be used for monitoring patients with confirmed diagnoses. If monitoring is needed, other specific tests like CTXBS, GPSY, or OXYBS are recommended.
Limitations
The test has a sensitivity of 75% and specificity of 89% for identifying Niemann-Pick type C. Positive results require follow-up with enzymatic or molecular testing for confirmation. It does not identify all causes of hepatosplenomegaly and may not distinguish among some similar phenotypes. Improper specimen collection and handling can impact results, and there is a risk of similar profiles with unrelated diseases like Wolman disease.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 92745-9
- 59462-2
- 92757-4
- 92749-1
- 92752-5
- 92763-2
- 92760-8
- 18771-6
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 Blood spots
Minimum Volume
1 Blood spot
Container
Blood Spot Collection card (Filter Paper)
Collection Instructions
Let blood completely dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours. At least 1 spot should be complete. Do not expose specimen to heat or direct sunlight. Keep specimen dry.
Causes for Rejection
Shows serum rings, insufficient specimen, layering, multiple applications
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |
| Frozen | 59 days |