Genetic Testing and Counselling   People seeking genetic counselling may be newly diagnosed patients, new parents or couples planning a pregnancy, or family members concerned that they too may carry a disorder.

Counsellors work as part of a healthcare team, involving clinical consultants, nursing and primary care teams. Most people are referred through a GP or hospital consultant following a diagnosis.

The first meeting will involve gathering information about the family history and gaining additional diagnostic information if necessary.  Diagnosis is vital for genetic counselling to be effective, and some people may need to be referred to a clinical geneticist for further testing. Once diagnosis is confirmed, the counsellor can ensure that any future sessions meet the patient and/or family's specific needs.

Genetic Testing and counselling It is possible for family members to be tested to see if they carry the faulty gene. Genetic testing and counselling is available at Regional NHS Genetic Centres in the UK. To obtain an appointment for a genetic consultation speak to your GP or the Consultant treating you, either will be able to refer you to the genetic centre in your region. The UK Genetic Testing Network (UKGTN) has produced a patient guide which explains about genetic testing services in the NHS and questions to ask when considering genetic testing.