Casandra
Casandra Test Code PG14493Version 1 (DRAFT)
Performing Lab
Lab Prevention GeneticsLab Test ID 10665
Hereditary Diffuse Leukoencephalopathy with Spheroids via the CSF1R Gene
Clinical Use
Order TestUse
This test is designed for individuals with features indicating a clinical or suspected diagnosis of hereditary diffuse leukoencephalopathy with spheroids. It is also applicable for individuals who have family members with a known pathogenic variant in the CSF1R gene or for reproductive partners of such individuals.
Special Instructions
Not provided.
Limitations
Testing is not FDA approved and relies on validation under CAP and CLIA regulations. The test uses NGS and may have limitations associated with next-generation sequencing techniques, such as inability to detect certain types of mutations or below the threshold variant frequency.
Test Details
New York Approved
Methodology
NGS (Targeted)
Biomarkers
CSF1R
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided