Rare and prevalent neurological conditions such as Parkinson’s disease, motor neurone disease, and epilepsy affect millions of people globally and can be life-threatening, with many severely affecting an individual’s quality of life. These diseases may be caused by a combination of genetic and environmental factors. Many of these factors are not yet fully understood. Although some diseases can be highly heritable, some do not follow set paths of inheritance and are not often the result of a single mutation. Advanced NGS technologies are helping accelerate research into areas such as epigenetics to investigate the complex relationship between heritable and non-heritable mutations to increase our understanding of diseases, leading to novel innovations in the diagnosis, treatment, and prevention of these diseases.

Whole exome sequencing (WES) and whole genome sequencing (WGS) with broad coverage of the genome offer pathways to finding new mutations relevant to diseases. Targeted sequencing panels for exploring the roles of specific genes. Identification of underlying mutations in neurodegenerative diseases is of crucial importance to researchers, clinicians and patients due to the heterogeneous nature of the genome and different clinical manifestations. Selecting suitable cost-effective genetic tests based on coverage area, and sequencing depth can improve diagnosis, treatments, and prevention.

Our cutting-edge egSEQ library preparation and targeted sequencing panels enable the generation of an unprecedented amount of genomic data with clinical accuracy. Contact us to explore what we can offer.