Our panels include over 3,900 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.
The My Retina Tracker Program, a collaboration between Blueprint Genetics, Foundation Fighting Blindness and InformedDNA, is an open access, no-cost program that offers individuals with IRD living in the US easy access to high-quality genetic diagnostics and genetic counseling. AGTC joins the program as a new scientific collaborator to enhance development of their investigational gene therapy for inherited retinal diseases (IRD).
In this webinar, Laboratory Director Dr Jennifer Schleit will provide an overview of multiple genetic testing technologies and their applications, with a focus on next-generation sequencing (NGS). This webinar is intended for individuals with less experience ordering genetic testing or who would like to refresh their knowledge on genetic testing technologies.
In this educational webinar, North American Marketing Manager Joe Jacher, MS, CGC and Executive Medical Director Dr Tero-Pekka Alastalo, MD, PhD will provide an introduction to genetic testing for inborn errors of immunity and examine Blueprint Genetics’ experience sequencing thousands of individuals suspected of having an inborn error of immunity.