NGS Panels

A Targeted Approach for Testing Genetic Disorders

By streamlining our 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.

Diagnosing a genetic disorder often requires analyzing multiple genes. We have designed our NGS panels to simultaneously test multiple genes associated with a particular disorder or group of disorders. Additionally, our panels include all relevant pathogenic and likely pathogenic variants (class 1 and class 2) within coding regions, regulatory sequences, and deep intronic regions. We use all publicly available databases such as HGMD and unpublished variants included in our rare disease-centric Bio/Databank to establish a diagnosis. We provide high-quality sequencing and best-in-class data analysis – interpreted and communicated in comprehensive medical reports. 

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 meeting any or multiple of the following criteria:*

• Distinctive clinical features  
• Family history of a particular disorder 
• Multiple genes 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

Medical Reporting

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.

Please note that detailed and specific clinical information (preferentially phenotype/HPOs) is required for variant interpretation and medical diagnosis.

Resources

Useful Links

Sample Requirements

Medical Reporting

Downloads

NGS Panels – Handbook

A targeted approach for testing genetic disorders

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