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

The Importance of Family: When to Consider Genetic Testing for Family Members

Sep 03, 2020

Genetic testing is often a question for the whole family. In this educational webinar, Senior Geneticist Dr Kirsty Wells will talk through the different scenarios of when genetic testing for family members is potentially valuable. Case examples will be presented to illustrate how familial testing can make a crucial difference to the genetic testing outcome.

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New and improved clinical report

Sep 02, 2020

The Blueprint Genetics clinical statement has been updated to provide quicker access to an overview of genetic test results. Following valued customer feedback, a summary of all findings has been added to the report. 

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Webinars

Detección de CNVs – ¿Por qué es importante?

Aug 31, 2020

Las variaciones en el número de copia (CNVs) representan una pequeña pero relevante parte en el diagnóstico molecular. En este seminario web, la Dra. Raquel Pérez Carro, genetista en Blueprint Genetics, hará una revisión de las capacidades y limitaciones de las diferentes tecnologías de detección de CNVs, haciendo especial hincapié en los métodos de detección basados en secuenciación masiva (NGS) desarrollados recientemente.

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