OVERVIEW
Hereditary hearing loss has a prevalence of 1 in 500 newborns and are one of the most common congenital disorders. In adults, the prevalence is increasing to 3.5:1,000. The proportion of genetically caused deafness is about 50-70%. Inherited hearing loss disorders can be syndromic or non-syndromic. Syndromic hearing disorders are associated with malformations of the external ear with involvement of other organs. Non-syndromic hearing disorders are associated with abnormalities of the middle ear and/or inner ear but do not have visible abnormalities of the external ear or involvement of any other medical problem. More than 70% of genetic deafness is non-syndromic, about 80% of non-syndromic genetic deafness follows an autosomal recessive inheritance. With the investigation of the genes GJB2 and GJB6 about 50% of the cases with autosomal recessive, non-syndromic, sensorineural deafness can be clarified. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for hearing loss disorders. The test can offer a molecular genetic diagnosis of a hearing loss disorder that is observed or predicted in you or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of a hearing loss disorder, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.
You have a child with
delayed speech development
You have a young child with
autism spectrum disorder
or specific language disorders
You want to estimate
the risk of recurrence
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.
