Monday, August 28, 2017

CADASIL - Cerebral Arteriopathy (exons 2-24 - NOTCH3) screening, biological sample

New Test in NOÛS Catalog
Test Code: 7416
Sample:
Biological Sample
Conservation:
Refrigerated
Method:
Sequencing Method
Set Up Days:
Daily
Delivery term:
32 days
Information:
CADASIL is the acronym of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. CADASIL is a genetically transmitted disease with a dominant autosomal pattern. The prevalence has not yet been established, but the disorder is probably under-diagnosed. It is associated with cerebral-vascular accidents, especially the ischemic stroke and migraines with or without aura. The onset of the symptoms is produced at around '0 years of age. The involved gene NOTCH3 is located in the chromosome 1p. This gene consists of 33 exons. The clinical diagnosis is confirmed by the identification of mutations in NOTCH 3. At present, the mutation analysis in 12 exons allows establishing the diagnosis in 0% of the cases. In absence of mutations in these exons, any gene can be sequenced. Our laboratory offers DNA sequencing with a diagnostic algorithm for the identification of frequent mutations. Code 383 consists of the sequencing of the third and fourth exon of the NOTCH3 with a detection index of approximately 75%. In the negative tests, the analysis is continued with the sequencing of the exons 2, 5 and 11 (CODE 1280), and finally it is possible to analyse the remaining exons in the code 1281.

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