Characteristics of the test: (includes 86 genes)

Basic characteristics of the clinical phenotype:

Parkinson's disease (PD) is a progressive neurodegenerative disease affecting the central nervous system. It ranks 2nd in frequency worldwide after Alzheimer's disease, affecting 1-2% of the population over 65 years of age and up to 4% of the population over 85 years of age.

Parkinson's disease is the most common form of parkinsonism, characterized by tremors, rigidity, chins/akinesia, and postural instability, and occurs in 80% of patients. The presence of non-motor symptoms such as neuropsychiatric symptoms, cognitive disorders, behavioral and personality changes, sensory and autonomic disorders, etc., accompanying parkinsonism, is associated with the so-called group of Atypical parkinsonian syndromes or Parkinson + syndromes (in 30-40% of PD cases). In PD, degeneration of dopaminergic neurons in the substantia nigra occurs, leading to a gradual decline in dopamine levels and usually accompanied by protein cytoplasmic inclusions – Lewy bodies and α-synuclein.

In most cases, the disease is sporadic, but 15-20% of cases are familial. Both autosomal recessive and autosomal dominant inheritance patterns can be seen in familial cases. According to the onset of the disease, they are divided into 3 groups - late-onset Parkinson's disease - the first symptoms appear after the age of 40, early-onset Parkinson's disease - between the ages of 20 and 40, and the juvenile form - under the age of 20.

Reasons for referring:
Confirmation of a diagnosis of PD, determining the carrier of a mutation known in the family, determining the risk of developing the disease. Autosomal dominant, autosomal recessive forms, as well as a pure or complex form of the disease.

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 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.