CADASIL and CARASIL Panel
Use
This test is designed for individuals with features indicative of CADASIL or CARASIL, or those with hereditary small vessel disease of unknown etiology. The test employs Next-Generation Sequencing (NGS) with CNV analysis to identify genetic variants that may contribute to these conditions, encompassing both the exome and genome platforms.
Special Instructions
The test is available in either Exome or Genome platforms, with several specimen options including blood, DNA, buccal, saliva, or tissue for the Exome platform, and blood or DNA for the Genome platform. New York State approval is indicated for this test, and a STAT testing option is available with a 25% surcharge for expedited processing.
Limitations
The test is dependent on the quality and quantity of the submitted specimen, and certain genetic variations may be challenging to detect due to technical limitations inherent to NGS and CNV analyses. Results are primarily interpretive and should be correlated with clinical findings and family history. Additionally, this panel does not encompass all possible genes related to CADASIL or CARASIL phenotypes.
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