Hereditary Diffuse Leukoencephalopathy with Spheroids via the CSF1R Gene
Use
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
For a faster processing time, STAT testing options are available with a 25% surcharge, but STAT surcharge does not apply if the report is delivered after 16 days and the blood sample was submitted. Testing can be performed on family units, including patient only, family duo, or family trio setups.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided