Next Generation Sequencing (NGS) Panels
Often the diagnosis of a genetic disorder requires the analysis of multiple genes, for example conditions that show similar phenotypes or that are caused by mutations in several genes.
In such cases it becomes difficult to pinpoint the genetic culprit by single genetic testing. Our NGS panels simultaneously test multiple genes associated with a particular disorder or group of disorders, thus reducing time and cost of diagnosis.
The gene composition of our panels is carefully selected by our specialists based on latest public information and our in-house research. The design of our bait libraries is supported by our proprietary mutation database CentoMD®.
Our NGS Panels
By choosing our NGS panels, you have the peace of mind that your diagnosis is based in extensive knowledge. NGS Panels are recommended for patients that follow any or multiple of the following criteria *
- Distinctive clinical features
- Family history of a particular disorder
- Multiple genes are linked to condition
- Genetically heterogeneous disorders
- Well-defined disease-associated genes
Conclusive clinical reports
- Interpretation of data by experienced professionals
- Clear results of identified variants following international best-practice guidelines (ACMG and CMSS)
- Detailed method description
- References to publications supporting medical and scientific results
- Recommendations for follow-up analyses for specific diseases
- Reporting of pathogenic variants, likely pathogenic variants and VUS
Why choose our NGS Panels?
* Genet Med. 2015 Jun;17(6):444-51. doi: 10.1038/gim.2014.122. Epub 2014 Sep 18.