December 2010 - My genetic testing results

Two posts ago I talked about having my doctor's office send a blood sample to Athena Diagnostics for genetic testing. I did get the results before Christmas of 2010, and here's what the report said:

This individual does not possess a DNA sequence alteration in the coding region of the Transthyretin (TTR) gene and therefore is unlikely to be affected with or predisposed to developing the Transthyretin-associated amyloidosis symptoms.

At a glance you might think that would be a big relief, since I tested negative. But if you're familiar with familial amyloidosis you know that I tested negative for the ATTR mutation of familial amyloidosis, not the fibrinogen mutation. ATTR is by far the most common familial amyloidosis mutation (in the US, anyway), and that's all Athena Diagnostics tests for. I actually figured this was going to happen when I looked at their web site after my doctor's office sent in the blood, because in the description of the test they specifically mention TTR (transthyretin) and peripheral neuropathy.

After emailing my results to Dr. Skinner in Boston to confirm that I had not been tested for the fibrinogen mutation, I called my doctor's office and gave them the good news. It took a little explaining and the conversation went something like this:

Me: They didn't do the right test at Athena Diagnostics.

Nurse: But they said you tested negative for familial amyloidosis. That's what your mother has, right?

Me: There are over 100 mutations of familial amyloidosis. They didn't test me for the one my mom has. If they had tested her for ATTR, she would have tested negative, too.

Nurse: Oh.

Eventually someone at the doctor's office realized they needed to simply figure out how to send the blood to Boston. (And there was much rejoicing.) I was still assigned an action item, which was to provide them with a small shipping box from the post office. Given all the other running around I had already done to try to make this happen, I was more than happy to do that, since both my doctor's office and the post office are within walking distance of our house.

So on December 20, 2010 I gave my doctor's office some more blood and a box to ship it in. They sent it to Boston for genetic testing. I was much more confident this time around that I would get some useful results. Stay tuned . . .