Ambry Question

[spicyone18]

Ok, my sister is pregnant and so she was tested to see if she is a carrier, in which she is. So they tested her boyfriend which thankfully came back negative. But I was wondering if they do the short version of carrier test or do they automatically send it to Ambry since CF is know in the family, or would she have to ask for them to send it to Ambry.

 

[julie]

Courtney, she would have to ASK them to send it to ambry genetics. Most incurance companies acutally require a preauthorization for the test because it is in the upper multiple thousands. They will need justification, and the fact that she is a carrier and that you have CF should be enough. The test results on hour sisters husband should indicate the # of mutations tested.

 

[spicyone18]

Thanks!

 

[serendipity730]

Courtney,
I can almost definitely say they did not send it to Ambry. They might have sent it to a place called Genzyme, which tests for 96 mutations. To be honest, I don't really think that Ambry screening is a good idea for carrier testing. The CF gene is very large, and people are likely to have changes in it. Just because a change in the CF gene is found does not mean that her boyfriend carries a mutation that causes CF. It could just be a normal variant or a change that we do not know what it does. I guess it really depends on how much your sister wants to know if the baby could have CF before birth. A lot of states now test for CF in their newborn screening.