WGS is becoming one of the most widely used applications, providing the most comprehensive genetic testing available for the diagnosis of rare diseases.
Extraordinary technological advances in NGS have made feasible WGS as a highly accessible clinical test for numerous indications. WGS analyzes the entire coding and non-coding regions of the DNA providing detailed information of thousands of genes and intronic regions.
The gene coding regions represent only 1-2% of the entire genome of the patient and it has been demonstrated by numerous clinical studies, that variants in non-coding regions, where the regulatory information that controls gene expression is contained, are determinants in the etiology of many complex pathologies.
The information provided by WGS study increases significantly the ability to characterize these complex pathologies, especially when TRIO study is performed (index case and parents). In these cases, the diagnostic capability is superior than the available exome sequencing.
WGS offers a holistic view of all DNA, in addition to detecting CNVs, translocations, splice site variants, regulatory region variants and insertions/ deletions.
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