Casandra
Casandra Test Code QD09370Version 1 (DRAFT)
Performing Lab
Niemann‑Pick Disease Mutation Analysis
Clinical Use
Order TestUse
This test is used for screening and diagnosis of Niemann‑Pick disease types A and B, which are caused by mutations in the SMPD1 gene. It can identify individuals who are carriers or affected by pathogenic variants, aiding in clinical decision‑making, diagnosis confirmation, and family planning.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
NGS (Targeted)
Biomarkers
SMPD1
GeneSNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
LOINC Codes
Order Codes
- 32641-3
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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