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Monday, March 14, 2011

Gavin’s Genetic testing for LCA **Update**

We heard back today on Gavin’s genetic testing.  The results came back as we kind of thought “unidentified”.  As it stands right now, Gavin does not have one of the 17 known genes that causes LCA.

Since our results from the Carver Lab came back “unidentified” last year – my feeling was this was going to be the results.  BUT I did have some hopes, because more genes have been added to the panel, and I had some hope that one of those would be Gavin’s.

Where do we go from here?

Our DNA is being sent to China to have Exome sequencing done.  To not get too scientific, Exome Sequencing is further investigation of the DNA strands using a different method of identification.  I can explain it all here, but instead I linked it to Wikipedia if you wish to learn more.

This will take approximately 4 months.

I will update as I get more information.. but as it stands, hopefully over the summer we will have some news of Gavin’s genetic mutation.  Until then, we will keep doing what we are doing!  Pushing forward.  We do our part, and let the research scientists do theirs.  Might I add the Dr in Colorado has been WONDERFUL.  He is connected to the family on the other side of the DNA sample.  I cannot say enough about Dr. Chiang.


One of our things is the Irvine Lake Mud Run in April.  Are you signed up to run or volunteer?  Hope so!  We are the charitable beneficiary for 2011.

This is part of what we do.



  2. I am sorry that it wasn't one of the 17 already known genes, but glad it is going for the next step! Mat did groan that it was going to take 4 months (and wondered why China), but we know you will hear something soon!!!

    Go Stevens Family!!!

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