Multigene panel testing helps us determine your individual risk to develop a condition and enables you to take control of your healthcare to detect, understand and manage any problems at an early stage, when they are most treatable.
Genetic testing can be used to identify whether patients are at risk of developing common hereditary diseases or conditions. As results can affect the lives of individuals and have implications for their family, insurance and employment, we provide patient counselling and ask for a consent during our consultation (a 30 minutes appointment is required).
Through the analysis of your DNA, by using a sample of blood, it is possible to establish if you have any specific genetic mutations which are associated with an increased risk of developing conditions such as certain forms of cancer, heart or lung disease.
Results are expected between 4 and 5 weeks after samples have been provided – with the exception of the pre-natal non invasive testing (Harmony), where results are available in 3-5 days – and given over a phone consultation.
If a positive result is found, we would recommend a referral to a Consultant Clinical Geneticist which would be able to provide extensive expertise in the diagnosis and counselling of inherited disorders (the Consultant fee is not included within the test price).
Cancer Risk Testing Panels
We offer a series of panels designed to help us determine an individual’s risk of the following types of cancer:
Full sequencing across 14 genes + deletions/duplications.
BRCA1 + BRCA2 only gene sequencing + deletions/duplications
Full sequencing across 16 genes + deletions/duplications
Full sequencing across 12 genes + deletions/duplications
Full sequencing across 22 genes + deletions/duplications
Carrier Screening (Before pregnancy)
This is a comprehensive genetic screen for over 440 different recessive disorders, such as Cystic Fibrosis, Sickle Cell Disease, Thalassemia and Spinal Muscular Atrophy.
It can be used for pre-pregnancy screening for couples that wish to check if they are silent carriers for a disease that would have serious implications for the future health of any children.
Patients who are concerned about a family history of a particular disease where common mutation detections are very high, such as Tay-Sachs Disease, can also request this type of screening.
Harmony (Non-invasive Prenatal Testing)
The Harmony test is being used in more than 100 countries around the world and has been used to guide clinical care in over 1.4 million pregnancies. The test can be used in singleton, twin and egg-donor pregnancies and has been validated for use in pregnant women aged 18 to 48. It can be administered as early as 10 weeks gestation. The Harmony yest analyses DNA circulating in a pregnant mother’s blood and it is used screen for Down syndrome (trisomy 21) and other common chromosomal conditions (trisomies 18 and 13). Options are also available to screen for X and Y chromosome conditions or for a deletion in chromosome 22q11.2.
Harmony Test, Non-Invasive Prenatal Testing (from 10 weeks):
– common aneuploidy screening from maternal blood
Harmony Test Plus, Non-Invasive Prenatal Testing (from 10 weeks):
– common aneuploidy screening from maternal blood, incl. 22q11.2 del