Genetic testing and medical expertise for a full, accurate diagnosis

Pinpoint the exact cause of inherited deafness, related syndromes and other ENT disorders in your patients.

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  1. Ear, Nose & Throat

Genetic testing for ear, nose & throat indications

Rapid and informative pre- and postnatal testing for genetic disorders of the ear, nose and throat.


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Symptoms related to a genetic cause

Over 100 genes are known to cause hearing loss, either in isolation or as part of a syndrome, with other symptoms ranging in severity and prominence. Less common is conductive hearing loss, where the cause of deafness is a barrier in the middle or outer ear, or combined hearing loss, where both sensorineural and conductive deafness are present.

In 30% of cases, additional physical findings lead to the diagnosis of 1 of >400 syndromes in which hearing loss can be a clinical component. In the remaining 70% of cases, nonsyndromic hearing loss is diagnosed1. In many cases, genetic testing will clarify the cause of an individual’s deafness, provide information on the likelihood of related health issues, and also establish the risk to other family members and future generations.

Referral reasons

  • Individuals presenting with the most common symptoms of ear, nose and throat-related disorders such as hearing impairment

  • Individuals with a positive family history of ear, nose and throat disease
  • Individuals without a positive family history but with symptoms resembling the specific disease indication

  • Individuals with a negative, but suspected, family history, in order to perform genetic counseling (prenatal analyses are recommended in families of affected individuals)

Diagnostic strategy

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy and recommendations.

Clinical symptoms are not always the product of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic cause.

What do we know about ear, nose and throat diseases?

Hearing loss is the most common birth defect in developed countries. One in every 500 newborns has permanent, bilateral, sensorineural hearing loss, and by adolescence the prevalence increases to 3.5 in every 1,000 people. Over 50% of deafness that occurs in children before speech onset has a genetic cause, most often autosomal recessive, and without association to any other medical problem. For this autosomal recessive, non-syndromic hearing loss, over half of cases are the result of a single mutation in either gene GJB2 (connexin 26) or GJB6 (connexin 30)2. The carrier rate in the general population for pathological GJB2 variant is approximately 1 in 33. As well as autosomal recessive inheritance of causative gene variants (~70% cases of genetic hearing loss in total), inheritance can also be autosomal dominant (15%), X-linked or mitochondrial3.

Deafness can present as part of a syndrome, for example Usher, Pendred, Jervell and Lange-Nielsen and Waardenburg syndromes. The targeted approach of our genetic testing panels makes it possible to simultaneously screen dozens of genes known to cause both non-syndromic hearing loss of autosomal recessive or dominant inheritance, as well as deafness syndromes that can present as isolated hearing loss.

Latest Scientific Articles for Ear, Nose & Throat

What can CENTOGENE do for you and your patients?

CENTOGENE has identified genetic variants associated with ear, nose and throat diseases in more than 140 different genes.

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy and recommendations. Clinical symptoms are not always the product of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic cause.

CentoMD® is the world’s largest mutation database for rare diseases, 57% of which is made up of unpublished variants. We carefully curate and document all variants that have clinical relevance for related symptoms, allowing the most comprehensive diagnosis of diseases of the ear, nose and throat.

Classification of deafness types:

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References:
  1. Morton NE (1991). Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16–31.
  2. Kenneson A, Van Naarden Braun K, Boyle C (2002). GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 4:258–274.
  3. Mehl AL, Thomson V (2002). The Colorado newborn hearing screening project, 1992–1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 109:E7.

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