CADASIL: NOTCH3 gene analysis

Diagnostic Use

Defects in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with sub cortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]. CADASIL causes a type of stroke and dementia key features of which include recurrent sub-cortical ischemic events, migraine headaches (30–40% of individuals) and vascular dementia. The disorder affects relatively young adults of both sexes with most affected individuals having an affected parent. Mutations affect highly conserved cysteine residues within epidermal growth factor (EGF)-like repeat domains in the extracellular part of the receptor. The pathologic hallmark of CADASIL is electron-dense granules in the media of arterioles that can often be identified by electron microscopy of skin biopsies.


Genetics - Molecular Pathology

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Constituent Tests



Turnaround Time

4 weeks

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