Expanded reproductive carrier screening is a more comprehensive carrier screen designed for couples, prior to pregnancy. This screen tests the biological mother and the biological father to determine their chance of having a child affected with one or more inherited genetic conditions. Testing covers over 250 different conditions.

The conditions included are either autosomal recessive or X-linked conditions.

Autosomal recessive
Children can be born with recessive genetic conditions if both parents are carriers of the same condition. Carriers usually do not experience any health problems themselves. If both parents are carriers, there is a 1 in 4, or 25% chance, of having a child affected by the condition. There is a 50% any child will be a carrier like the parents.

X-Linked recessive
These conditions are carried on the X chromosome. If the biological mother is a carrier of an X-linked condition, there is a 50% chance any sons will be affected and a 50% chance that any daughters will also be carriers.

Most people who have expanded carrier screening will find out they are carriers of at least one condition. In most cases, it is only if both biological parents are carriers of the same condition that there is a chance of having a child with that condition. Expanded carrier screening can also have implications for other family members.

Test Process

Expanded carrier screening is a couple based test performed using saliva samples collected from both biological parents at the same time. Saliva collection kits and instructions are mailed to you and inlcude reply postage.
Below is an overview of the test process.