Whole Genome Sequencing
Whole genome sequencing (WGS) identifies almost all changes in a patient’s DNA by sequencing both the entire protein coding and the non-coding regions of the genome. It provides for instance detailed information on the thousands of genes involved in normal growth, development, and all of the “silent” genomic regions simultaneously.
Today there are millions of patients suffering from incorrectly diagnosed or undiagnosed genetic diseases because of insufficient genetic testing. Although in certain cases approaches like single gene testing, panel testing or microarrays are able to identify the cause of a disease, these analyses are ultimately limited and can fail to reveal the full genetic cause. WGS, in contrast, overcomes such limitations and can detect all relevant variants and variant types within a single step and method.
Most research on genetic diseases has been heavily biased towards mutations in gene coding regions, but this is about only 1-2% of a patient’s entire genome. Numerous clinical studies now exist which demonstrate the critical role of non-coding sequence variants as well.
CentoGenome® – Key Features
WGS captures the broadest scope of genetic alterations causing a disease in one single test – single nucleotide variants (SNVs), small insertions and deletions (InDels), structural variants (SVs), including large copy number variations (CNVs), and thus providing the most comprehensive variant analysis.
When is CentoGenome® Recommended ?
CentoGenome® is recommended especially for the diagnosis of patients with heterogeneous phenotypes, unclear or atypical clinical symptoms, or with a long list of prior differential diagnoses, or who have exhausted other genetic testing options.