Analysis of a selected NOTCH3 gene mutation - diagnostics of CADASIL syndrome

Analysis of a selected NOTCH3 gene mutation - diagnosis of CADASIL syndrome

Clinical significance

CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) - mófatal arteriopathy with subcortical infarcts and leukoencephalopathy, a disease of the small arterial vessels of the mógovt. The cause of the disease is a dysfunction of the intracellular transcription-activating receptor, located mainly in smooth muscle cells. The disease is caused by mutations in the NOTCH3 gene. It initially manifests with migraines with aura, transient episodes of ischemia and strokes in the white matter of the mózygon and basal nuclei. In the póe period, cognitive impairment, epilepsy, psychiatric symptoms (depression) and motor deterioration may occur. The test involves the analysis of a selected mutation of the NOTCH3 gene for the diagnosis of CADASIL syndrome

Patient preparation

Material: EDTA blood