Genetics and Usher syndrome

Usher syndrome is an inherited condition caused by a change in structure, or mutations, in your genes.

Genes are sets of information, inherited from your parents, which dictate the growth and development of every cell in your body.

The problems associated with Usher syndrome are caused by changes in the structure of your genes.

Diagnosing Usher syndrome

Usher syndrome is commonly diagnosed via clinical assessments of sight, hearing and, in some cases, balance.

These tests are also used to manage and assess the progression of Usher syndrome.

There are three sets of tests: ophthalmology, audiology and balance. Genetic testing can be used to make or confirm a diagnosis of Usher syndrome.

What is a genetic test?

A genetic test checks whether you are carrying a specific mutation in one of your genes, and whether you are at risk of developing or passing on a particular genetic condition.

If you are diagnosed with Usher and you are the first person in your family to be tested, neither the gene nor mutation will be known. In this case, the genetic test will look at many different genes to determine the one causing the condition.

A genetic test usually requires a blood sample to be taken. DNA is then extracted from the sample so that genetic information can be scanned and screened.

Genetic counselling

Genetic counselling is different from genetic testing.

It’s where you, and in most cases your family, are given information by a specially trained professional (either a genetic counsellor or a clinical geneticist) on your genetic condition.

Genetic counselling is designed to help you make informed medical and personal decisions, and answer any questions you may have. 

Importantly, genetic counselling gives you the opportunity to understand the impact genetic testing may have on your family, employment and insurance before taking the test. 

How to get genetic testing and genetic counselling

If you would like to take a genetic test you should speak to your GP to request a referral to a genetic clinic.

Any results from a genetic test may prompt your GP to recommend a referral for genetic counselling. If not, you should ask them to refer you. You may need to explain why either genetic testing or counselling would help.

Contact the Sense Usher Service

The Sense Usher Service can help you find further information and advice about the genetics of Usher syndrome.

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