Whole Genome Sequencing Service
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.
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Services Overview
Today there are millions of patients suffering from misdiagnosed or undiagnosed genetic diseases as a result of insufficient genetic testing. Although in certain cases approaches like single gene testing, panel testing, or microarrays can 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 is the only test that can detect nearly all types of disease-causing genetic variants in one single test.1,2
Most studies on genetic diseases have been heavily biased towards variants in gene coding regions, but this only accounts for approx. 1-2% of a patient’s entire genome. Recently, however, a growing body of studies have demonstrated that clinical WGS offers a more comprehensive analysis than WES and can provide molecular diagnosis where WES can not.1-5 Non-coding variants, such as intergenic and intronic pathogenic variants, are growing in number and importance, spanning from sequence variants to more complex structural variations.5,6
CentoGenome®, CENTOGENE's whole genome sequencing service, offers the most comprehensive one-step solution with the highest diagnostic yield.
Key Features
CENTOGENE’s WGS solution, CentoGenome®, offers unparalleled genome coverage and captures one of the most extensive ranges of disease-causing genetic variants in a single test. This includes single nucleotide variants (SNVs), small insertions/deletions (InDels), and structural variants (SVs), including copy number variations (CNVs), and heteroplasmic mitochondrial variants.
CentoGenome® is a highly effective diagnostic tool - delivering high diagnostic yields across a variety of rare genetic conditions. CentoGenome® is especially valuable in patients for whom previous WES produced negative results, with a recent study showing its ability to solve up to 30% of WES negative cases.5
By choosing this comprehensive and rapid analysis, you can save your patients valuable time to diagnosis and consequently may help to further refine prognosis and enhance therapeutic decision-making.
Why Choose CentoGenome®?
- Unparalleled genome coverage and multi-variant detection
- Highest diagnostic power in a single test
- Fast track to diagnosis and potentially therapy
- Best-in-class clinical reports
- Most comprehensive dataset for lifelong discoveries
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