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Analysis of exons 2, 3, 5, 6 and 11 of the NOTCH3 gene - the 2nd stage of CADASIL syndrome diagnostics
The study analyzes exons 2, 3, 5, 6, and 11 of a gene associated with an inherited vascular and cerebrovascular disease called CADASIL syndrome, as a second step in diagnosing the disease.
Synevo
from
PLN 1,080.00
- Test description
- Documents
Analysis of exonsów 2, 3, 5, 6 and 11 of the NOTCH3 gene - stage II diagnosis of CADASIL syndrome
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 impairment, epilepsy, and psychiatric symptoms (depression) or motor deterioration may also occur. The study involves analysis of exons 2, 3, 5, 6 and 11 of the NOTCH3 gene - the second stage of CADASIL syndrome diagnosis.
Patient preparation
Material: EDTA blood