The biomarker technology has a greater application in the diagnosis of diseases, the development of drugs and the effectiveness of the treatment.
WGS identifies almost all changes in a patient's DNA by sequencing all the coding and non-coding regions of the genome. It provides detailed information about the thousands of genes involved in normal growth and development and all "silent" genome regions simultaneously.
Today there are millions of patients suffering from genetic diseases diagnosed incorrectly or undiagnosed because the best technology has not been applied. Although in certain cases tests such as the single variant, panel test or microarrays are sufficient to identify the cause of a disease, these analyzes are ultimately limited and may not reveal the full genetic cause. The complete genome sequencing can provide the analysis of many more variants in a single method.
Existing research and diagnosis of genetic diseases have been strongly biased towards mutations in the coding regions of genes, but this is only 1% of a patient's complete genome. There are currently numerous clinical studies that reveal the critical role of non-coding sequence variants in diseases.
We particularly recommend the complete sequencing of the genome to:
Unclear or atypical phenotype with missing clinical diagnosis.
Phenotype with significant genetic heterogeneity, where mutations in several genes can lead to the same clinical presentation (for example, neuropathies, ataxias, intellectual disability and muscular disorders).