Description
Medicover Adventia Carrier Screening Test
Adventia is a new DIY home genetic test based on a cheek swab for carrier screening to determine whether a phenotypically healthy person is a carrier of a genetic disease. The genetic insight provided by Adventia can inform, guide and empower people on their reproductive choices and minimize the risk of people who are carriers transmitting a genetic disease to their children. Adventia offers a choice of different panels and testing for up to 229 moderate to severe autosomal recessive and X-linked genetic diseases.
Click the link to download the Adventia Patient Brochure
Why Get Tested?
Anyone can carry certain mutations (genetic changes) in their body. Some mutations may have no effect on our health and development, while others can cause a genetic disease. When an individual has a mutation in one of their genes, but the mutation is not powerful enough to be expressed, that individual is a carrier of a recessive disease. Two carriers of the same recessive disease can have a child who is affected, if the child inherits the mutation from both of them.
As carriers are asymptomatic, they are unaware of their carrier status and the risk of passing a mutation to their children. In fact, many mutations for recessive diseases could be inherited via multiple generations without clinical manifestation. Unless you have been tested, it is impossible to know whether you are a carrier of a recessive disease.
Who Could Benefit from Adventia
Adventia is a beneficial and comprehensive test for everyone based on a novel and powerful technology and can provide meaningful results in a short turn-around time to help you minimise your risk of transmitting a genetic disorder to your children.
- 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
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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 Does Adventia Test For?
Adventia screens for autosomal recessive and X-linked diseases.
Carriers of recessive diseases have one healthy gene and one gene with the mutation.
Autosomal Recessive Conditions
Autosomal Recessive Diseases affect chromosome pairs 1 to 22.
If both parents are carriers, they have:
● 1 in 4 chance of having an unaffected child
● 1 in 2 chance of having a child who is also a carrier,
who has inherited the mutation from only one parent
● 1 in 4 chance of having an affected child, who has inherited mutations from both parents.
X-Linked Conditions
X-Linked Diseases affect the X chromosome, found on the 23rd chromosome pair
which determines gender.
● 1 in 2 chance of having a carrier daughter. Female carriers may or may not
exhibit disease characteristics due to X-inactivation*
● 1 in 2 chance of having an affected son. Males who have inherited the mutation are always affected, as they only have one X chromosome.
Focus Panels
Focus Panels
Six individual panels for highly frequent and severe genetic diseases:
● A-Thalassemia
● B-Haemoglobinopathies
● Cystic Fibrosis
● Duchenne Muscular Dystrophy
● Fragile X Syndrome
● Spinal Muscular Atrophy
Click here to learn more about the focus panels!
Core Panel (22 gene, 20 conditions)
Guidelines Core Panel
20 genetic diseases of high incidence and clinical severity. The Core panel includes all diseases tested in the Focus panels, and other diseases including Phenylketonuria, Fanconi Anemia Group C and Tay-Sachs disease.
Click here to learn more about the Core Guidelines Panel!
Comprehensive Panel (229 conditions)
Comprehensive Panel
229 diseases that have moderate to severewell-defined phenotype and high cumulative frequency. The Comprehensive panel includes all diseases of the Core panel, and covers a wide range of metabolic, cardiovascular and hematological diseases, amongst others.
Why Choose Adventia?
Adventia was specifically designed to be a beneficial and comprehensive test for everyone, regardless of ethnic background and family history. It is based on a novel and powerful technology and can provide meaningful results in a short turn-around time to help you minimize your risk of transmitting a genetic disease to your children. The diseases tested by Adventia:
● have moderate to severe phenotype (characteristics)
● are high in carrier frequency
● can severely compromise quality of life
● may be manageable through early interventions
When Should I Get Tested?
Adventia carrier screening can be performed by any individual or couple when they wish to learn more about their genetic information to minimize the risk of transmitting a genetic disease to their children. Adventia can also be done during pregnancy if prospective parents wish to know whether their child has a risk of having a genetic disease.
What Do The Results Mean?
The Adventia report will have information on the following:
● Results on genes tested
● Thorough interpretation and clinical significance of mutations detected
Adventia reports on pathogenic and likely pathogenic variants.
What Can I Do After Adventia Carrier Screening
Depending on the results, the disease, and whether the test was performed by an individual wanting to know more about their genetic profile or a couple planning their family, we recommend the following:
- Genetic counselling to receive more information on the potential impact of the disease, and discuss their choices on how to minimise the risk of transmitting the disease to children
- In-vitro fertilisation (IVF) and preimplantation genetic testing (PGT-M) to ensure the baby will not have the affected phenotype
- Choosing a compatible gamete donor without the same mutation
- Early intervention, therapies where available, and better clinical management for affected children
- Having prenatal diagnosis during pregnancy, if they wish to know whether their baby is affected or not
