RARE DISEASES GENETICS

Diagnosing a genetic disorder often requires analyzing multiple genes. We offer NGS and microarray 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 We use all publicly available databases such as HGMD and unpublished variants included in our partners biobanks to establish a diagnosis.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 panels, your patients will receive high-quality genotyping, best-in-class data analysis and interpretation as well as comprehensive medical reports – significantly simplifying the diagnostic process for you and your patients.