Next Generation Sequencing (NGS) Panels
By streamlining our Next Generation Sequencing (NGS) Panels to reflect the fast-growing knowledge of complex gene-disease associations, CENTOGENE’s NGS Panels represent start-of-the-art research – providing fast, thorough, and cost-effective diagnostic solutions for patients and their families.
Often the diagnosis of a genetic disorder requires the analysis of multiple genes, prompting us to design our NGS panels to simultaneously test multiple genes associated with a particular disorder or group of disorders. Additionally, our NGS panels include all relevant pathogenic and likely pathogenic variants (class 1 and class 2) within coding regions, regulatory sequences, and deep intronic regions described in HGMD and CentoMD®, our robust data repository of rare diseases.
When choosing one of our NGS panels, your patients will receive high-quality sequencing, best-in-class data analysis and interpretation as well as comprehensive medical reports – significantly simplifying the diagnostic process for you and your patients.
Our NGS Panels
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
* Genet Med. 2015 Jun;17(6):444-51. doi: 10.1038/gim.2014.122. Epub 2
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?
Pathogenic and likely pathogenic variants are reported following ACMG classification guidelines. Variants of uncertain significance (VUS) are not reported in any of the following cases: the described phenotype(s) is explained by detected pathogenic or likely pathogenic variant(s); the detected VUS are not related to the described phenotype(s) of the patient or family members; in the lack of sufficient clinical information; and in our oncogenetic panels. For details of the genes included in your panels click here.
Please note, that detailed and specific clinical information (preferentially phenotype/HPOs) is required for variant interpretation and medical diagnosis.