Jessi - - Wishing negative results for you! My husband had carrier testing last year and it is an emotional time. We had our results within a week and I almost wished we had more time to contemplate our reactions to the results. It took us some time/ discussions to decide to test so we were surprised that we would have results so quickly after the blood draw.
Overall, if you can get more mutations screened easily enough than by all means go for it, but just in case you aren't able to have the tests completed I wanted to point out that it may not change your overall confidence in the result. For example (sorry this is a bit winded), we opted for the smaller no. of screens which gave us 99.6% confidence that my husband was not a carrier. The other test offered to us (I don't think it was Ambry so I am not saying that these numbers directly apply to the Ambry test) gave us an additional 0.1% making us 99.7% confident that he was not a carrier.
Are you able to meet with a genetics counselor to discuss the tests and their relative confidence around the genetic screening? It may help put your mind at ease in regards to going with a larger smaller screening panel. Frequency of the individual mutations (and inclusion of the more frequent mutations within the screening) play a larger role in your assurance of your negative result than the no. of mutations that are screened. A panel can screen for 1000s of mutations but if some are so rare and their frequency is extremely low it doesn't really give you that much more confidence (statistically speaking) of the neg test.
Just something to think about and/or discuss with your dr.'s/ genetic counselor if they are available for you. At the end of the day, no test will be 100% confident on a negative test but your risk is basically non-existent.
Best wishes! I know how grueling it can be to wait for results!
Overall, if you can get more mutations screened easily enough than by all means go for it, but just in case you aren't able to have the tests completed I wanted to point out that it may not change your overall confidence in the result. For example (sorry this is a bit winded), we opted for the smaller no. of screens which gave us 99.6% confidence that my husband was not a carrier. The other test offered to us (I don't think it was Ambry so I am not saying that these numbers directly apply to the Ambry test) gave us an additional 0.1% making us 99.7% confident that he was not a carrier.
Are you able to meet with a genetics counselor to discuss the tests and their relative confidence around the genetic screening? It may help put your mind at ease in regards to going with a larger smaller screening panel. Frequency of the individual mutations (and inclusion of the more frequent mutations within the screening) play a larger role in your assurance of your negative result than the no. of mutations that are screened. A panel can screen for 1000s of mutations but if some are so rare and their frequency is extremely low it doesn't really give you that much more confidence (statistically speaking) of the neg test.
Just something to think about and/or discuss with your dr.'s/ genetic counselor if they are available for you. At the end of the day, no test will be 100% confident on a negative test but your risk is basically non-existent.
Best wishes! I know how grueling it can be to wait for results!