Characteristics of the test: (includes 47 genes)

Basic characteristics of the clinical phenotype:
Dementia is a disease affecting the central nervous system, characterized by varying degrees of memory loss, cognitive impairment, etc. Due to the overlapping clinical pictures of the different diseases, making an accurate diagnosis can be difficult. It has been proven that mutations in different genes leading to different diseases can lead to similar clinical manifestations. Clarifying the diagnosis can improve and support the patient's treatment.

Reasons for referring:
 All patients with symptoms of dementia, dementia of unknown etiology, affected family members with dementia.

Method: Next Generation Sequencing (NGS).
The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of target genes.

Sensitivity of the method: depends on the content of G-C and A-T, as well as the presence of segmentally duplicated genes.

What does the test involve?

· DNA isolation and sample storage.
· Parallel sequencing of the target genes.
· Bioinformatic analysis of sequencing data. For each patient, only data for the gene(s) of interest were analyzed.
· Forming a written result of the genetic test.
· Diagnostic interpretation of results and genetic counseling.

Biological material: Venous blood or DNA

For more information, please read the "Biological material requirements and shipping information" carefully.