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.
In this webinar, Senior Manager of Genomic Services, Kim Gall, MSc, CGC, will review this group of disorders, the genetics of IRD, and how to navigate genetic testing to maximize diagnoses in the clinic.
Ending the diagnostic odyssey for your patient: The need for precise testing and accurate analysis Satellite Session: Saturday, June 12 – 12:15-13:00 CEST Part I: Choosing the right genetic testing strategy, can one size fit all? With the rapid advance of new genetic analysis technology and increased choice…
During this educational webinar, Laboratory Director Dr Jennifer Schleit and certified genetic counselor Christèle du Souich, will delve into an in-depth discussion on variants of uncertain significance, exploring both the clinical team and diagnostic laboratory’s perspective.
Please be advised that we only accept specimen collection kit requests from medical professionals. If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.You can order up to 10 kits per type and 30 kits total. If you need more kits, please contact our customer support team.