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Monday, November 22, 2010

Latest Genetic Testing Findings

As you all know, we are in the middle of Genetic Testing. We learned a month ago that a small piece of Caleb's Chromosome 15 was duplicated. So Kyle and I got bloodwork done, to see if either of us has the same thing. I got a call today, and was told that I carry the same duplication. I either got this duplication from one of my parents, or it is something new with me. They need me to come in again to have more bloodwork done. This way they can do a kareotype, and look more closely at my chromosomes. We will find out whether the Ch. 15 duplication is the only thing going on, or if anything else is also switched around, or in the wrong location.

Is this duplication linked to Caleb's heart defects? Not sure. Will they do an Echo on my heart? They might. Will we test Kailey to see if she also has the duplication? I will for sure, no doubt about that. I have read that in some cases, the extra chromosome is very small, and has no effect on a person's health. No concrete answers yet, but we are working our way slowly, to what we hope, is a reason for all the heartbreak we have been through.


  1. Lauren, I will be following this closely. My husband had a CHD (very minor) and so does his mother (very minor.) Zoe is HLHS, as you know, so I am considering genetic testing for our family as well. What type of panel did they do - anything specific for CHD or was it a more general panel? Hoping you get some answers for you and your family. I know the stress and heartache it brings, but answers are important. Hugs.

  2. Stacey-
    I know that they did a general test and then a microray on Caleb, which is when they found the small piece of Chromosome 15 duplication. Mostly general I guess, and now that we know that I carry the same duplication, they are digging deeper into my kareotype. Lots of heart hugs to you and your family.

  3. OF course I am anxious to hear what they find. I hope it brings peace, no matter what the outcome is :)