Characteristics of the test: (includes 23 genes)

Basic characteristics of the clinical phenotype:

Frontotemporal degeneration (FTD) encompasses a group of progressive degenerative diseases affecting the central nervous system, particularly the frontal and/or temporal cortex, and is the second leading cause of dementia after Alzheimer's disease. They are generally characterized by a progressive change in behavior, language, and personality. Several subtypes are distinguished, depending on the etiology and pathology of the disease - behavioral variant, frontotemporal dementia and primary progressive aphasia. They, in turn, differ in pathological changes in the brain - accumulation of MART - microtubule-associated protein tau, TDP-43 - transactive response DNA-binding protein 43 kDa, FUS - fused in sarcoma protein.

The behavioral variant of FTD leads to progressive changes in the patient's behavior and personality, resulting from degeneration of neurons in the frontal lobe. These include cognitive disorders, apathy, difficulties in performing tasks, etc.

Primary progressive aphasia is characterized by disturbances in speech, the use of words and concepts and their meaning, and subsequently, with the development of the disease, cognitive disturbances also develop.

Reasons for referring:
Suspicion of FTD, clarification of diagnosis, confirmation of diagnosis, presence of family history of FTD and/or LAS. Changes in personality or behaviour, problems planning and carrying out tasks, progressive loss of words, problems with their use and meaning and using the right words.

Interpretation of results:
· The detection of point mutations and small deletions/insertions in the genes of the panel will allow a genetic diagnosis to be made.

· Presence of large deletions and insertions cannot be detected by this method. A combination with a suitable CNV analysis (MLPA, aCGH) is recommended for their detection.

· The genetic counselor will interpret and answer all questions about your result.

Method: Next-generation sequencing
The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of target genes. The laboratory offers Sanger sequencing of a single exon or a pair of exons in the patient's relatives to determine carrier status in cases where the mutation is known (Test #182).

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.