Clinical Exome sequencing:
The clinical exome sequencing is a comprehensive DNA test where all the clinically validated exome for all the diseases are screened using Next-generation sequencing technology. Most of the conditions related to genes are caused by variation in the exome. The exome is coding regions of the DNA which carry out every metabolic function in the human body, from growth hair to growth of blood cells in the body.
Benefits of Clinical Exome Sequencing:
CES utilizes a method commonly referred to as next-generation sequencing, consisting of a massively parallel sequencing strategy enabling rapid genome-scale sequencing of DNA at a significantly reduced cost relative to the Sanger method, yet capable of detecting all the same types of mutations (e.g., point mutations, small insertions/deletions, and splice-site mutations).
Clinical exome sequencing in neurologic disease:
CES can be cost-effective due to its high diagnostic yield in comparison to other genetic tests in current use and should be utilised as a routine diagnostic test in patients with heterogeneous neurologic phenotypes facing a broad genetic differential diagnosis. CES can eliminate the need for escalating sequences of conventional neurodiagnostic tests.
Many common disease phenotypes exist that could result from mutations in various genes. This genetic overlap is particularly true in neurologic disorders, including disorders causing neuropathy, epilepsy, ataxia, particular sensory impairment, myopathy, movement disorders, intellectual disability, and others, which creates a particular challenge for accurate genetic diagnosis.