Test Details
Test Name
:
CADASIL
Alternative Test Names
:
CADASIL, CEREBRAL AUTO. DOM. ARTERIOPATHY WITH SUBCORT. INFARCTS AND LEUKOENCEPH.
Code:
CADA
Test Overview
:
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a cause of stroke and vascular dementia. It is a condition of mid-adulthood that can result from mutations in the Notch 3 gene on chromosome 19. These mutations can be identified by direct sequence analysis of Notch3 coding sequence (exons). The CADASIL screen involves a limited analysis of Notch3 by direct sequence analysis of PCR-amplified leukocyte-derived genomic DNA, specifically of exons 3, 4, 5 and 6 of this gene which have been reported to be the site of most recurrent mutations. It has been estimated that more than 70% of Notch3 mutations occur in exon 3,4,5 and 6.
Test Preparation Instructions
:
N/A