Parkinson Disease Clinical Report
Parkinson Disease Clinical Report
The Parkinson's Disease Clinical Report, based on Whole Genome Sequencing, analyzes genetic variants linked to Parkinson's disease. This neurodegenerative disorder results from mutations in genes crucial to the development and function of the nervous system. The report analyzes more than 70 genes related to the risk of developing the disease.
Provides full genome coverage
Most genetics studies have demonstrated correlations between Parkinson’s disease and a wide range of mutations, occurring both in coding and non-coding regions of the genome:
- single-nucleotide variants (SNVs), located in intronic regions.
- structural genomic variations, including copy number variations (CNVs), that affect multiple human PD phenotypes.
- alterations in intergenic regions of the genome.
- mutations in noncoding regulatory regions.
- small genomic deletions or gains that affect regulatory regions.
Only Whole Genome Sequencing can detect the small regions of such structural variations with high resolution, providing full genome coverage and the most comprehensive, accurate, and precise test for diagnosing medical conditions or understanding predispositions to diseases. In case of common gene panels, the lack of complete coverage results in incomplete information.
Importance of Whole Genome Sequencing in Parkinson’s Disease:
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Disease Prevention:
identification of individuals at higher risk for Parkinson’s disease, allowing for proactive measures to mitigate risk
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Early Detection and Diagnosis
for timely intervention and treatment.
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Personalized Medicine
based on tailored treatments according to the individual’s genetic makeup, improving efficacy and reducing adverse reactions.
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Research and Advancements:
Genetic testing contributes to ongoing research efforts to better understand the genetic basis of Parkinson’s disease, leading to the development of new therapies and advancements in Parkinson’s disease knowledge.