Characteristics of the test: (includes 40 genes)

Basic characteristics of the clinical phenotype:
Alzheimer's disease (AD) is the most common progressive neurodegenerative disease affecting the central nervous system, particularly cortical degeneration. It is characterized by progressive dementia, cognitive disorders, difficult decision-making, hallucinations, psychiatric disorders, confusion, speech disorders, etc.

Accumulation of amyloid plaques and neurofibrillary tangles are observed, leading to degeneration of neurons. According to the onset of the disease, it is divided into Alzheimer's disease with early onset - 60-65 years of age (5%) and Alzheimer's disease with late onset - after 60-65 years of age (95%). Regarding the mode of inheritance in family cases, autosomal-dominant and autosomal-recessive types are observed.

Reasons for referring:
Presence of dementia, family history of AD, suspicion of AD, confirmation of AD diagnosis

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 (NGS).

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 the  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 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.