Appointments and Testing


The number of appointments you have and whether they are with a genetic counsellor or a specialist genetic doctor (Clinical Geneticist) varies depending upon the genetic condition, whether there is a clear diagnosis and your particular circumstances.


First contact

We aim to see patients within 18 weeks. The initial contact may be with a genetic counsellor or genetic information nurse. You will either get a telephone call or receive an appointment by post for you to come straight to the clinic. In certain circumstances we may arrange to visit you at home. In this appointment you will be able to tell us your view of the referral and what questions you would like us to try and answer. To help to give you accurate information there will also be a detailed discussion about any relevant medical and family history. 


Further appointments

An appointment with a specialist genetic doctor is always needed if a medical examination is required to try to make a diagnosis of a genetic condition. At this appointment the doctor will review the information you gave to the genetic counsellor and they may ask to examine you. Sometimes it is necessary for the doctor to gather more information or to arrange tests.

We may ask you some details about your close relatives to help us with a diagnosis. These details include:

  • their full name
  • their date of birth
  • their address

If appropriate, it may also be helpful to know:

  • if they have been given a diagnosis of a genetic condition
  • if so, when and where they were diagnosed or treated

Please note that we will not contact any of your relatives directly without you having discussed this with them first, and will not ask for the medical records of relatives without their permission.


Sometimes we offer to take blood for testing on the same date as your appointment or we may ask you to go away and decide whether or not you want a genetic test. The main types of testing we offer are:

  • Chromosomes test
  • DNA test

Other tests we may offer include:

  • carrier testing
  • diagnostic testing
  • pre-symptomatic testing or predictive testing
  • pre-natal diagnosis
  • pre-implantation genetic diagnosis