About genetic disorders

There are between 4,000 and 6,000 diagnosed genetic disorders.

It is estimated that one in 25 children is affected by a genetic disorder and therefore 30,000 babies and children are newly diagnosed in the UK each year.

Some genetic disorders are apparent at birth while others are diagnosed at different stages throughout childhood, and sometimes into adulthood.

Films about genetic disorders

Films about genetic disorders

What is it like to have broken more than 30 bones in your body by the age of ten? How does it feel to have walked as a young child and now be confined to a wheelchair?

Watch our 4 minute films to see extraordinary children tell their stories about living with genetic disorders.

Watch our films
Patterns of inheritance

Patterns of inheritance

Genetic disorders can either be inherited from both parents or from a single parent. The links below will show you how different disorders are inherited through the generations.

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Genetic testing

Genetic testing

Genetic testing usually involves having a sample of your blood or tissue taken. The sample will contain cells that contain your DNA and can be tested to find out whether you are carrying a particular mutation and are at risk of developing a particular genetic condition.

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Genetic Disorder Charities and Support Groups

Genetic Disorder Charities and Support Groups

These charities and support groups provide information and support to patients with specific genetic disorders.

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FAQs

FAQs

If you have a question about genetics, genetic services or testing, you might find the answer in our list of frequently asked questions.

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