Laboratory Test Information Guide

Details for CADASIL

Test Name: CADASIL
Alternate Name(s): Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
Laboratory: Molecular Diagnostics
Specimen Type: Whole blood-2 x 4 mL Lavender EDTA top Vacutainer tube
Collection Information: Blood samples must be maintained at room temperature.
Requisition: MOLECULAR DIAGNOSTIC REQUISITION
Test Schedule: As Required
Monday - Friday
0800 - 1600 h
Turnaround time from when specimen
is received in testing laboratory:
 
Routine
3 months
Stat
 
 
Reference Range: See report
Effective Date:  
Revised Date: 2016-03-21
Critical Value: N/A
Interpretive Comments: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)1 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 offered in this laboratory 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 [1] that more than 70% of Notch3 mutations occur in exon 3,4,5 and 6.

References

1. Joutel et al. (1997) Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Nature 350:1511-1515
Special Processing:  
Comments: For more information click on:
MOLECULAR DIAGNOSTIC LABORATORY
Method of Analysis: DNA Sequence Analysis
Critical Information Required: Pedigree required.
Storage & Shipment: Must be received in testing laboratory within 5 days of collection, shipped at room temperature by courier/overnight delivery.
System Codes: 
Cerner
 
 
Referred To:  

Questions? Comments? Contact Laura Gopaul