Who is it for?
The work involved in medical genetics mostly takes place in the laboratories where the analyses are carried out. Nevertheless, the patient is always the focal point in all the activities of the CMG.
First of all there is 'the clinic': the doctors and their staff. They form a multidisciplinary team who offer help and guidance to patients with questions about genetics. You can read about this under Consultation.
The patients who consult the CMG doctors are very diverse: people who want a genetic diagnosis for themselves or have come for a prenatal diagnosis, people who want their child to be tested, people who want to know more about a particular disorder in their family and the risk of developing the disorder themselves, people trying for a baby and considering PGD treatment, and others. We offer help and advice to all of them at the CMG.
The work done in our laboratory is also for patients. A significant proportion of the laboratory personnel (researchers) do concentrate on scientific research, but the main activity of the laboratories is still diagnostic testing. These tests are used to confirm (or exclude) the diagnosis of a genetic disorder where the CMG doctors suspect that a patient is suffering from it.
The Cytogenetics laboratory tests samples from patients to produce an analysis of their chromosomes, while molecular geneticists at the DNA laboratory are responsible for detecting errors in the genes. In the Biochemistry laboratory we test specific proteins involved in cellular waste processing.
These tests are carried out with the aim of providing either a prenatal diagnosis (for a fetus) or a pre-implantation diagnosis (for an embryo), or a postnatal diagnosis in children and adults.
Not all the samples tested by the laboratories come from patients attending consultations or being treated by the CMG. We also process samples that come to us from outside, via other testing centres or from referring doctors or clinical laboratories.