The exponential growth in genetic information related to neurological disorders is facilitated by the advantages offered by next-generation sequencing (NGS) technology. The high throughput and accuracy of NGS make it a valuable tool for clinical diagnostics, particularly for neurological diseases with complex phenotypes influenced by multiple genes. Targeted NGS Whole Genome sequencing specifically identifies conditions such as neuromuscular disorders, Charcot-Marie-Tooth disease, ataxia, epilepsy, myopathies, and neuropathies.
Testing for neurological diseases, including the use of genetic testing method such as NGS whole genome sequencing, provides several advantages:
Identifying the genetic basis of diseases prevents the use of improper therapies and unnecessary diagnostic testing. While whole-exome and whole-genome sequencing in clinical research reveal disease-causing variants, their diagnostic potential is limited by high costs and data processing requirements.
Whole genome reporting proves invaluable in understanding various genetic diseases and risks. A neurological disease whole genome sequencing report simplifies result interpretation for clinicians, ensuring quick delivery of meaningful insights. The report aids in identifying disease causes when faced with diagnostic uncertainty.
Next Generation Sequencing (NGS) technology supports the diagnosis of rare genetic conditions and optimizes treatment courses for individuals Whole genome sequencing (WGS) has advantages over whole exome sequencing (WES) as it is unbiased, evaluating both coding and non-coding genome regions.
WGS can identify single nucleotide variants (SNVs), small insertion/deletions (indels), copy number variants (CNVs) and structural variants (SVs) in both coding and non-coding regions.
