Patient leaflets
Becker Muscular Dystrophy (BMD)
Becker Muscular Dystrophy (BMD) is a condition that affects all the muscles of the body, causing them to become progressively weaker.
Being referred to the Genetics Service
This leaflet explains about the importance of completing your genetics questionnaire.
Cystic Fibrosis Carrier Testing
Cystic Fibrosis is a genetic condition affecting around 1 in 2,500 people. It affects a number of organs in the body (especially the lungs and pancreas) by clogging them with thick, sticky mucus. The symptoms of cystic fibrosis can include: repeated chest infections and coughing, digestive problems, diarrhoea and abnormal stools
Family history of Bowel Cancer
In the UK, bowel cancer is the third most common type of cancer and affects about one person in 20 (men and women) during their lifetime; however, most people who get bowel cancer develop it in later life.
Fragile X Syndrome (FRAX)
FRAX is the most common cause of inherited learning disability. It affects boys and girls and causes a wide range of problems with learning and behaviour, from mild to severe.
Genetic Testing
The condition you have may be due to a change in a gene (portion of inherited material). We are able to offer a test to look for changes in the genes associated with your condition. This leaflet has some further information about genetic testing.
X-linked Inheritance
Genes are the unique instructions which make each of us an individual. There are thousands of different genes, each carrying a different instruction. If a gene is altered (or ‘mutated’), it can cause a genetic condition or disease.
