Thursday, October 8, 2015

Pre-Conception Genetic Testing (Part 1)

We have known since the time we were first married that we would be seeking pre-conception genetic testing. C's family has a history of carrying Tay Sachs Disease. Due to his Ashkenazi (eastern and central European) Jewish heritage, we knew that this increases the risk that he carries several recessive genetic disorders in addition to Tay Sachs, including Cystic Fibrosis (1 in 24 Ashkenazi Jews carries this recessive trait), Gaucher Disease (1 in 15), and Niemann-Pick (1 in 115). 

As we began our journey to prepare for pregnancy, we researched different options for completing the process for completing this genetic testing. We learned that for insurance to cover it, C would be tested first. If his test reveals that he is a carrier of any recessive genetic disease, A will then complete her own test to see if she also carries the trait.
We chose to go through the company JScreen for the pre-conception testing. Our kit arrived just a few days ago -- we took a few pictures so you could see what the kit looks like:

The tube in the picture here is for saliva collection. Once filled with saliva, the top of the cap has a solution to stabilize the saliva for shipping (this is released when the tube is sealed).

Here is a close-up of the instructions on the lid of the box.

We received confirmation that C's saliva sample was received by the lab this week. JScreen then sent him a "quiz" to make sure he understands the basics about recessive traits in case anything comes up positive. If any of the diseases are positive in his panel, we also have to meet with a genetic counselor.

Watch for Part 2 once we receive the results!

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