Why whole genome sequencing?
Today there are millions of patients suffering from wrongly or undiagnosed genetic diseases. WGS identifies nearly all changes in a patient’s DNA by sequencing the entire coding and non-coding regions of the genome. It provides detailed information on the thousands of genes involved in normal growth and development and all of the ‘silent’ genome regions simultaneously.
Existing research and diagnosis of genetic diseases have been heavily biased towards mutations in gene coding regions, but this is only 1% of a patient’s entire genome. Numerous clinical studies now exist which reveal the critical role of non-coding sequence variants in diseases.
WGS opens the door to greater research and diagnostic power for all genetic diseases.
Unparalleled genome coverage & multi-variant detection
Reliable interpretation from over 10 years of diagnostic experience
<12 days TAT with Trio-Advanced fast
Flexible sample submission
Whole genome sequencing and analysis at CENTOGENE
CENTOGENE is revolutionizing genetic diagnostics with CentoGenome® – our premium whole genome analysis service for the diagnosis of complex diseases.
Whole genome sequencing (WGS) with CentoGenome® provides the most comprehensive genetic testing available for the detection of rare diseases. It identifies more different types of DNA sequence variation and offers greater sensitivity than any other technology available.
Our genome pipeline includes all of the following in a single, in-house workflow
In-house validated sequencing workflow of all coding and non-coding genome regions utilizing Illumina next generation sequencing (NGS) platform
Filtering, analysis and interpretation of single-nucleotide variants (SNVs), indels, structural variants, and CNVs both in the ~1% portion of the genome that encodes protein sequences and in non-coding sequences
End-to end bioinformatics analysis of raw data with clinical reporting
Use CentoGenome® for diagnosis when the patient presents
- Complex and heterogenous syndromes with an unclear or atypical phenotype
- A phenotype with significant genetic heterogeneity, where mutations in several genes may lead to the same clinical presentation (for example neuropathies, ataxias, intellectual disability, and muscular disorders)
- Causative cancer mutation in tumors at every stage of treatment
CentoGenome®’s key application is the diagnosis of severe intellectual disability
A detailed clinical analysis with comprehensive genetic testing is known to be the best way to achieve a diagnosis in this disorder, which often has a high level of genetic heterogeneity. WGS analysis with CentoGenome® can be applied as the primary analysis needed to reliably identify and characterize the comprehensive spectrum of genetic variation and provide a genetic diagnosis in the majority of patients with ID.