Adventia: A Genetic Test For Carrier Screening
Adventia can check whether an individual is a carrier of a genetic disease, in order to minimise the risk of transmitting the disease to their children. Carriers are not affected, and do not show any symptoms of a disease, but could have a child who is affected.
Invaluable Insight Into Your Choices When You Are Trying To Conceive
Adventia carrier screening can help you minimise your risk of transmitting a genetic disease to your children, and give you insight into your reproductive choices. By testing moderate to severe diseases that could severely affect quality of life, Adventia can inform you of your choices if a genetic change is identified.
We also carry out cancer screening at the clinic.
What Are Some Of The Issues For Which We Can Test?
Genetic counselling on the potential impact of the disease and your reproductive options
Prenatal diagnosis during pregnancy to know whether your baby is affected
In-vitro fertilisation (IVF) and preimplantation genetic testing (PGT-M) to make sure your baby will not be affected
Fertility treatments and choosing a compatible gamete donor without the same mutation
Early intervention, therapies where available, and better clinical management for affected children
Who Is Adventia Carrier Screening For?
Couples planning to start their families and want to know about their carrier status
Any individual or couple going through assisted reproduction, including IVF
Sperm and oocyte donors, and recipients of sperm or oocyte donation
Couples who are already pregnant and want to know whether their child has a risk of having a genetic disease
High-risk population groups for specific diseases
People with a family history of a genetic mutation
Any individual wishing to know more about their genetic background
What Should I Expect From My Appointment?
You will be greeted by one of our friendly receptionists.
You will be asked to fill in our consent form and will be given a copy of our Terms and Conditions.
We will also ask for some extra details about your pregnancy to ensure our sonographer and team are completely informed about the reason for your visit.
You and your family can then just relax before going into the scan room.
Your sample will be collected by one of our expert clinical staff.
Your results will normally be available 3 weeks after your appointment.
FAQs
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Genetic testing identifies changes in the DNA. Some changes have no effect on health and development, while others can cause genetic diseases with moderate to severe effect on our health.
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Genetic diseases are caused by a variant (a version that is different from the standard) in a gene. Variants are also known as mutations. Depending on the gene involved, diseases are inherited in different patterns:
Autosomal dominant diseases: The mutation is present in only one gene copy and is sufficient to cause the disease to be expressed in the person with the mutation. Examples: Huntington’s disease, Neurofibromatosis
Autosomal recessive diseases: The mutation is present in only one gene copy but it is not ‘powerful’ enough to cause the disease to be expressed in the individual with the mutation, who is known as a ‘carrier’. Carriers are healthy, but two carriers of the same mutation could have a child who is affected if they both pass on their mutated gene copy. Examples: Cystic fibrosis, Beta-thalassemia
X-linked diseases: The mutation is present on the X chromosome, one of the two chromosomes that define gender. Females have two X chromosomes, so when they inherit a mutation in one of their X chromosomes, they are carriers with or without exhibiting symptoms. Males have only one X chromosome, so when they inherit a mutation in their X chromosome, they are affected. Examples: Duchenne Muscular Dystrophy, Fragile X
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A healthy person has two pairs of 23 chromosomes in all the cells of their body (except for the gametes, egg or sperm, where they have just 23 chromosomes). Half of each pair is inherited from their mother and the other half from their father. Chromosomes have hundreds of small ‘sections’ on them called genes. Genes have the ‘recipe’ of our genetic material (DNA) and are responsible for executing it properly; they make up our physical characteristics and tell our bodies how to work and function properly. Sometimes, instead of the correct gene, a gene with a mutation (change) will be inherited instead. Depending on the mutation and where it occurs, mutations could have no effect, or they could cause genetic diseases by changing how the gene works, prevent it from working properly or from working altogether.
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Carrier screening is a test that can be taken by any individual to check if they are carriers of a genetic disease.
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A carrier is an individual who has a mutation in one of their two gene copies. Carriers are not affected, and they don’t show any signs or symptoms of a disease. Two carriers of the same mutation could have a child who is affected by the genetic disease if they both pass on the gene carrying the mutation.
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Monogenic diseases are caused by a mutation in a single gene. They are also known as single gene diseases.
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As males have one X and one Y chromosome, when their X chromosome has a mutation the disease always manifests. Females have two X chromosomes, and when one of their X chromosomes has a mutation they are carriers of an X-linked disease. They may exhibit some symptoms of the disease or no symptoms at all, due to ‘X-inactivation’ – a mechanism that always ‘shuts off’ one of the two X chromosomes in females so they don’t have twice the number of genes as males, which would be toxic. As this process is random in the female cells, the X chromosome with the mutation can be silenced in varying degree in female carriers; thus explaining the symptom variability shown in X-linked diseases.
