Cerebral Small Vessel Disease Panel
Use
This test is designed for individuals who have clinical features or a suspected diagnosis of cerebral small vessel disease. It is particularly useful for those with a family history of the condition but without previous genetic testing. Identification of genetic mutations associated with cerebral small vessel disease can provide insights into disease pathogenesis and help guide clinical management decisions.
Special Instructions
This test employs NGS with CNV on either the Exome or Genome platform. It includes an explicit list of 10 genes relevant for cerebral small vessel disease analysis. Care must be taken to appropriately choose between the platforms based on the patient's specific clinical needs and prior genetic evaluations.
Limitations
The test may not detect all genetic alterations that contribute to cerebral small vessel disease due to limitations inherent in the exome or genome sequencing platforms, including regions of low coverage or complex rearrangements. Variants outside the targeted exonic regions and known CNVs may not be identified, and the platform may miss mosaicism or mutations in regulatory regions outside of well-characterized hotspots.
New York Approved
Methodology
NGS (CGP)
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