Ear, Nose & Throat

Genetic testing for ear, nose & throat

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.

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How to order

Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.

Latest news and resources

Webinars

In Focus: Complex Genetic Regions in Clinical Diagnostics

Jan 14, 2021

In this educational webinar, Clinical Development Manager Dr Johanna Sistonen will review the latest advancements in analyzing difficult-to-sequence regions. We will provide insight into our own troubleshooting strategies for challenging cases and our approach to customized sequencing and bioinformatic solutions.

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Videos

Video: The Rapidly Evolving Field of Retinal Genetics

Jan 13, 2021

We spoke with Dr Reddy about how she utilizes genetic testing when caring for patients with an ophthalmologic disorder and what she looks for in a test. She provides insight into the positive effects of ordering genetic testing for her patients and discusses the benefits of the My Retina Tracker Program, an open access genetic testing program for patients in the US with inherited retinal disease. Finally, she shares her thoughts on what the future of ophthalmology will look like and the role that genetic testing plays.

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