Clinical Genetic Services

Your Clinic Appointment - What we cover 

Clinic appointments are an exercise in gathering the data as to why you feel you need a Clinical Genetics consultation. As such we will conduct a detailed assessment of the following;

  1. your medical history

  2. the problem which has brought you to see us and how it is affecting you

  3. your concerns for others in your family and 

  4. whether there is a means of securing a diagnosis at a genetic level in your case. 

Inherent to this process is a detailed family history, with details of others in the family who have had medical illness, possibly the same disorder as brings you to our door.

A clinical examination is usual in our clinic, occasionally photographs are taken with your consent to demonstrate specific clinical findings in the file and which will assist us in genetic testing.

NOTE: Most cases will need to attend the Clinic in person, although some follow up appointments can be undertaken by telephone or remote consultation. Generally this will relate to situations where a test result is being given and personal attendance can be obviated.

Genetic Testing – Suitability & findings

Genetic tests are discussed with you to establish the following;

  • their advisability

  • how specific a test can be expected to be

  • what the findings might be and how these would impact on you – as well as implications for other family members. 


Genetic Testing – Results Timelines

Generally tests can take 6 to 8 weeks to become available, although in some cases such as when we are looking for an already known family mutation, this timescale can be considerable foreshortened.

Clinical Genetic Appointment Conclusion

The appointment will conclude with 

  • a plan for your further follow-up, 

  • a discussion about how and when test results will be communicated to you and about whether there is benefit in further attendance at the clinic. 


Management of the Diagnosed Genetic Disorder

For management of diagnosed genetic disorders, we will often refer you onwards to another Consultant with relevant expertise to advise on management. A letter summarizing the information given at the appointment will follow each consultation, with a copy to your GP and others involved in your future care. Learn more here