BEGINNERS GUIDE TO GENETICS

A-Z of Genetics

Some of the terms doctors will use when they talk about genetics are confusing. Here is an A to Z of the most common terms you will hear.

Genetics BASICS

The many complex sounding words and phrases used in genetics can be quite baffling. This section will help it all begin to make sense.

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.

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. .

Regional genetic centres

Whether you’re looking for help with diagnosis, condition management or anything else to do with genetics, here is the information to help you get through to the right people.

100,000 GENOMES PROJECT

This project aimed to test the genomes from 100 000 samples of people with rare disease, their families and people with cancer.   


Genetic Disorder Charities and Support Groups

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


faq’S

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

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