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

Common Myths About Genetic Testing

Dec 20, 2019

In this webinar, Laboratory Director and Senior Geneticist Jennifer Schleit (PhD, FACMG) will review and discuss common questions and misconceptions about genetic testing.

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Insights

New and Improved Cardiology Panels

Nov 28, 2019

In October, a total of 86 new genes were added to 16 updated cardiology panels. The update takes into account the latest findings in the field and customer requests in order to meet the needs of providers, and increase the diagnostic potential of panels.

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