Analysis of exons 7, 9, 8 and 11 of the NOTCH3 gene - the 3rd stage of CADASIL syndrome diagnostics

Analysis of exonsów 7, 9, 8 and 11 of the NOTCH3 gene - stage III of CADASIL syndrome diagnosis

Clinical significance

CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) - móCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, a disease of the small arterial vessels of the móheart. 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 pós, there may be cognitive dysfunction, epilepsy, psychiatric symptoms (depression), deterioration of motor skills. The study involves the analysis of exons 7-10 of the NOTCH3 gene - the third stage in the diagnosis of CADASIL syndrome.

Patient preparation

Material: EDTA blood