Our panels include over 3,000 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
NGS-based genetic diagnostics are becoming a mainstream practice for conditions associated with hearing loss and deafness. It is also recommended by international guidelines (American College of Medical Genetics and Genomics (ACMG) and PMID: 24941903 and 24651602). Considering the great number of genes involved in hereditary hearing loss and deafness, NGS-based panel testing is generally accepted as the most cost-effective primary diagnostics option.
What genetic diagnostics can offer patients with Ear-Nose-Throat diseases
Numerous genes are implicated in hereditary hearing loss and deafness. Pathogenic variants in any of these genes may present a cause of hereditary hearing loss and deafness. Therefore, the success of genetic counseling and risk assessment greatly depends on accurate and specific determination of the genetic diagnosis. Together with clinical diagnosis, genetic diagnosis is key to understanding the inheritance pattern and prognosis of the disease. Genetic diagnostics is the most efficient way to subtype these diseases. It provides the necessary information to make confident individualized treatment and management decisions. Additionally, genetic diagnosis can help in family planning.
Summary Genetic testing is recommended for individuals with suspected heritable thoracic aortic disease (HTAD), as results can guide management, determine whether additional surveillance for extra cardiac features is indicated, and identify at- risk relatives. To further demonstrate the value of genetic testing for these patients, we reviewed results from…
Summary Pancreatitis can result from a combination of both genetic and non-genetic factors. Some genetic variants are highly penetrant, while others act as low penetrance “disease modifying” contributors, making results difficult to interpret. To better understand the inheritance patterns and complexity of results,, we reviewed genetic testing results from…
Summary Background: As the importance of genetic testing in primary immunodeficiency (PID) grows, this study aimed to add to the knowledge of genetics of PID by employing advanced sequencing techniques and focusing on difficult-to-sequence gene regions. Methods: A retrospective review of nearly 2,200 patients suspected of PID,…
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