CADASIL1 via the NOTCH3 Gene
Use
This test is intended for individuals with clinical or suspected diagnosis of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). It is also useful for individuals who have white matter abnormalities on brain MRI suggestive of CADASIL, such as subcortical infarcts, or those with characteristic granular osmiophilic material observed in skin biopsies or positive granular NOTCH3 staining of the vessel wall.
Special Instructions
Turnaround time for this test ranges from 2 to 3 weeks for standard testing and 7 to 16 days for STAT testing. Please ensure that specimens are collected and shipped according to the guidelines. Institutional pricing may be available through sign-in.
Limitations
The test may not detect all possible variants associated with CADASIL. Negative results do not rule out the presence of other genetic conditions. The test is limited to the detection of variants in the NOTCH3 gene using NGS with CNV analysis on either exome or genome platforms. Interpretation of results should consider clinical presentation and family history.
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