These variants can affect how our bodies grow, develop and function.
We’re all different and we all carry these gene variants, most times we just don’t know about them.
If these variants are shared by both partners it can cause a serious genetic disease in their child.
Most children born with an inherited genetic disease never had a family history of it. Obviously this often feels completely 'out of the blue' for the parents.
Our test includes many serious diseases that are more frequent in different ethnic communities are often excluded in industry standard tests.
When combined, the average risk of having a child with one of these diseases is higher than the risk of having a child with Down syndrome.
Knowing your risk in advance can help you make more informed pregnancy choices; and if necessary, significantly reduce your risk of passing on the disease.
Some consider their carrier status as partners, just before trying to get pregnant to make informed reproductive choices for their family.
Some consider their carrier status as important health information to incorporate in their plan for their future, long before they think about starting a family.
For many, having a natural pregnancy after a marriage is what’s most important. In this case, it’s important to know your carrier status before marriage.
All diseases that are included in the Eugene carrier screen are:
If two people are carriers for the same condition, there’s a one in four chance that their children would have the disease.What specific disease are tested?
For x-linked conditions the sex of the parent who passes on the variant influences the risk for the children.What specific disease are tested?
Professor David Amor
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