Q:
What tests are done for CADASIL?

A:

GENETIC TEST
This test is the most popular to confirm CADASIL. It detects mutations in the NOTCH3 gene.  Only a small amount of blood, which can be taken from a vein, is needed for this genetic test.  

SKIN BIOPSY
A very small skin biopsy is easily performed under local anesthetic. It is important this is
processed in a special way allowing it to be looked at under high magnification using an  electron microscope.  Under this magnification, one can frequently see abnormal collections of material, which we call GOM (granular osmiophilic material).  If these GOM are present, we can be almost certain that the individual does have CADASIL. However, the skin biopsy can be
negative.

Date: 2013

CTWHH Brochure

 

Return to questions