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Analysis of the NOTCH3 gene exon 4 - the 1st stage of CADASIL syndrome diagnostics
The study involves the analysis of genetic material on a stretch of DNA identified as exon 4 of the NOTCH3 gene, associated with an inherited vascular and cerebrovascular disease known as CADASIL syndrome, as a first step in diagnosing the disease.
Synevo
from
PLN 429.00
- Test description
- Documents
Analysis of exon 4 of the NOTCH3 gene - Stage I of the 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 dysfunction, epilepsy, and psychiatric symptoms (depression) and motor impairment may also occur. The test involves analysis of exon 4 of the NOTCH3 gene and is the first step in the diagnosis of CADASIL syndrome.
Patient preparation
Material: EDTA blood