Sunday, September 6, 2009

CF Carrier Testing....

Our gene testing results are in and one of our goals in gene testing was to figure out which gene mutation came from which family linage. Based on the information thus far we know which gene came from Lane's paternal side as well as maternal side. Our hope is that this will allow the family members who desire to do genetic carrier testing as well as genetic counseling to receive it at a much more affordable cost. It is our understanding that since we now know which specific gene to look for, the cost of testing is much less.

We now know that Lane has:
Delta F508 - carried from paternal side
p. N1303K- carried from maternal side

The following is maternal results and report:

The risk of being a carrier:
If you are Lane's Lovin Sibling - 2 in 3
If you are Lane's Lovin Aunt or Lovin Uncle- 1 in 2
If you are Lane's Lovin Niece or Lovin Nephew- 1 in 3
If you are Lane's Lovin Cousin 1 in 4
Obviously the are still risks for extended family beyond these, and if no known CF exits in family history and you are northern European decent you still have a risk of 1 in 25.

Ambry Genetics is one of several labs that offer carrier testing and I have included the link to their very informative site. Below you can also find a brochure for Genetic Testing for CF Carrier Status.

1 comment:

  1. Very interesting...thanks for sharing!!! I have to say that i've never heard of the 2nd mutation. Glad that you took the initiative and found out what cf mutations Lovin Lane has....and hopefully other family members will consider doing the testing as well. I've always been curious if any of my family, extended family, etc., are cf gene carriers, but no one has gotten tested. And there is no history of CF as far as we can trace back!


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