Whole genome sequencing
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.
Today there are millions of patients suffering from incorrectly diagnosed or undiagnosed genetic diseases because the best technology has not been applied. Although in certain cases tests like single variant testing, panel testing or microarrays are sufficient to identify the cause of a disease, these analyses are ultimately limited and can fail to reveal the full genetic cause. Whole genome sequencing can provide the analysis of many more variants in a single method.
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.
Why choose CentoGenome®?
Whole genome sequencing at CENTOGENE – CentoGenome®
All available CentoGenome® packages
WGS with CentoGenome® is highly recommended for diagnosis when the patient presents:
- Unclear or atypical phenotype with a missing clinical diagnosis
- 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)
Clinical anamnesis and reporting
CentoGenome® enhances state-of-the-art WGS technology with expert filtering and interpretation of data by experienced professionals with reference to CENTOGENE’s comprehensive disease-linked mutation database (CentoMD®).
Conclusive clinical reports:
- Validated by human genetics consultants and geneticists
- Detailed descriptions and explanations of the applied testing methods
- Differential diagnosis and detailed assessment of the clinical information received
- Clear results, recommendations and genetic counseling
For high-quality interpretation of the data it is crucial to obtain specific and detailed clinical information from the index patient and the family (TRIO) when performing whole genome sequencing. This increases the diagnostic yield from roughly 20% to over 40%.
CENTOGENE does not report on findings not directly related to the cause of a disease and not listed in the ACMG guidelines (Green RC et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing, Genet Med. ).
CentoGenome® - Case study PGAP3 gene
Successful diagnosis of hyperphosphatasia with mental retardation syndrome type 4 after detecting the c.181+1G>T variant in the PGAP3 gene – using CentoGenome®
CentoGenome® - Case study SLC12A3 gene
Successful diagnosis of Gitelman syndrome after detecting the c.1670-191CYT variant in the SLC12A3 gene – using CentoGenome®