Testing for known genetic conditions in a family

If a relative has been diagnosed with a genetic condition, or has been found to be a carrier of a genetic condition, we discuss the implications of this for other family members.

We arrange appropriate genetic testing to clarify the risk of developing the inherited condition, or passing it on to future children.

We support families to understand complex genetic concepts, and assist them to communicate the important information to their relatives.

Carrier of a genetic condition

An individual who is healthy, but has a genetic mutation (change) in a known disease causing gene is called a carrier for that condition. Carriers themselves will not usually develop the genetic condition, however they face the risk of passing that genetic mutation down to their children.

There are various modes of inheritance, or ways in which our genes are passed down to our children.

Click on the below diagrams to learn more about each mode of inheritance.

An autosomal recessive condition is inherited when both parents are carriers of genetic mutations (faults) in the same gene

X linked conditions are passed down on the X chromosome, therefore affecting males and females differently.

An autosomal dominant condition only requires one copy of a faulty gene for the condition to be present.

Illustrations: National Library of Medicine (US). ^1.

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