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


Tackling Uncertainty Around a VUS

Apr 01, 2021

In our annual VUS webinar, we will review how variants are classified and provide further guidance on what providers can do to advance reclassification. Case examples, recent publications, and current guidelines around VUS will be discussed as well.

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Our service hours during Easter 2021

Mar 24, 2021

During the Easter holidays, our Helsinki laboratory and Customer Support have a few exceptions in opening hours. Please note the closing times for the Helsinki laboratory when shipping samples. If you have any questions regarding sample reception, we are here to help!   The Helsinki laboratory and Customer Support opening…

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Challenges in confirming a diagnosis in skeletal dysplasia

Mar 15, 2021

Given the considerable phenotypic overlap among the over 450 skeletal dysplasias and growth disorders, establishing the precise diagnosis can be a challenge. We looked at over 500 cases from 3 commonly ordered panels in this disease group and recognized key elements to consider that contribute to establishing a molecular diagnosis.

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