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How can I be referred?

In order to be referred to our service, we require a referral letter from your GP or other medical professional; as recommended by the Medical Council who will need to follow the following referral guideline.

Read more on how to be referred to the Department of Clinical Genetics.

What can I expect at my appointment?

You will be seen by a member of the Clinical Genetics team. This may be a doctor who specialises in genetics or a genetic counsellor. Appointments for genetics are usually 45-60 minutes. Genetics appointments often involve an assessment of the clinical question, taking medical history and family tree including medical details of relatives, and discussion of the genetic issue in question and available options/tests.

What is a genetic test?

Our genetic information is contained in genes, which are present in the cells in our body. Genes are like a code, similar to a recipe, to tell our bodies how to develop and function. If there is an error in this genetic code, like a spelling mistake in a recipe, it can cause differences in our genetic code, or sometimes a genetic disorder. Each person has two copies of each gene, one from our mother and one from our father.

Blood samples can be tested to provide information about our genetic code. A diagnostic genetic test can be carried out when an individual is showing symptoms, to see what may be causing the person’s symptoms. A predictive genetic test is used when there is a known genetic disorder in the family, and an asymptomatic individual (with no symptoms) wants to know if they are at a higher risk for developing the condition in their family. There is also prenatal testing.

The genetics clinic is publicly funded. Families are frequently referred to our department for a number of reasons:

- Families who are concerned about a known or suspected genetic condition such as cystic fibrosis, Huntington disease, inherited heart disease, chromosome disorder, muscular dystrophy or other conditions.

- Where there is a concern about a child in a family who has learning delay and /or dysmorphic features.

- After the diagnosis of foetal abnormality or foetal loss during a pregnancy or in the neonatal period.

- Families in which there is a strong history of cancer.

What will happen after my appointment? How and when will I receive my results?

We will write to the doctor who referred you to genetics with a summary of the appointment and any plans that have been made, such as further investigation or follow-up. You will also be sent a letter. Results may be given by a member of the Clinical Genetics team, by appointment, letter or by phone call, or by your referring doctor. Results may take different amounts of time, depending on the test.

What if I don’t want to have genetic testing?

You can attend an appointment with Clinical Genetics without having to have a test. Your consultant or genetic counsellor will provide you with information and discuss options that may help you to make informed decisions about genetic testing and understand your genetic risk of a condition.

If a gene change is passed down, will it always cause disease?

This depends on the genetic alteration in question, but no, not always. For example, an individual may carry a mutation for a hereditary cancer in their family, but may not develop cancer.

What happens to my sample?

What happens to my sample Updated

How do I prepare for my appointment?

We ask that once you are given an appointment that you contact the department to confirm, defer or cancel that appointment as soon as possible.

There are often many questions families would like to know answers to. Write down any questions you might have and take them with you to the clinic.  We commonly get asked: What is the diagnosis, Why did it happen or What are the chances of it happening again?

Please read your appointment information carefully to ensure you attend the right clinic, for Dublin clinics it could be either CHI at Crumlin or CHI at Temple Street. Parking is limited so please allow yourself enough time to attend for your appointment on time.

If you cannot attend your clinic appointment please let us know in advance by calling 01 409 6739 so we can give the appointment to someone else on the waiting list.

If your family is already known to the Department of Clinical Genetics, please contact the department directly. We will take your details over the phone and you could be put on our waiting list if clinically required.

Please note:

- The laboratories cannot accept direct enquiries from patients. If you have a query about your genetics test‚ please refer to the doctor who ordered the test. Ask them to contact us on your behalf if they cannot answer your query in full.

- DCG consultants cannot answer enquiries from patients via e-mail. If you have a clinical question for a consultant, please telephone or write to the DCG Consultant concerned, using the contact details provided in the Contact Us section.

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