We just got back from our genetic counseling appointment. It was was surprisingly very educational and useful. Colin and I were presented with 4 different types of CF screenings and had the hardest time deciding which one to do. We finally agreed that we would do a Sequencing screen which was more in depth than the basic 32 Mutation Panel. Our geneticist is going to contact our insurance one more time to verify that they will cover this expense and will let us know if they give the okay today or tomorrow. Then I will get my blood drawn and wait 2-3 weeks for the results. We are quickly realizing that this IVF processes is going to be lengthy; so many decisions to be made, so much information to consider, waiting for results. What happened to the baby being dropped off on your doorstep by a stork?
Monday, May 19, 2008
Genetic Counseling Appointment
We just got back from our genetic counseling appointment. It was was surprisingly very educational and useful. Colin and I were presented with 4 different types of CF screenings and had the hardest time deciding which one to do. We finally agreed that we would do a Sequencing screen which was more in depth than the basic 32 Mutation Panel. Our geneticist is going to contact our insurance one more time to verify that they will cover this expense and will let us know if they give the okay today or tomorrow. Then I will get my blood drawn and wait 2-3 weeks for the results. We are quickly realizing that this IVF processes is going to be lengthy; so many decisions to be made, so much information to consider, waiting for results. What happened to the baby being dropped off on your doorstep by a stork?
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5 comments:
I didn't even know that there is more than one test. What is the difference? Wouldn't they all give you the same results? It seems like it definitely is going to be a long road but it will be so worth it. If the stork just dropped off your baby you definitely wouldn't appreciate it as much.
LOL, I love the baby on the doorstep comment. That was cute :)
Do you know what company is doing the testing? I HIGHLY recommend AMBRY genetics. We did the genzyme test first, it tested for 89 mutations. Then a few months later I learned about AMBRY. They test for about 1,300 of the known mutations.
It is a long road....but SOOOO worth it!
I love your updates! I feel like we are going through this together :) Julie is such an awesome help too:) Glad to see you are one step closer :)
To answer Emily's question:
There are so many different tests because there are over 1000 different CF mutations. The most basic test screens for the 32 most common CF mutations. The sequence screen that we want to do screens for several 100 mutations. There are even more in-depth screens that can test for even more. The more in-depth screens are also more expensive so it depends on what insurance will cover.
To answer Julie's question:
ARUP Labs will be doing the testing. I actually asked the geneticist about the AMBRY panel since you had mentioned it to me and he said that was an option for us as well. We are waiting for our insurance company to say which type of screening they will approve and then we will see from there. How long did you wait for your results? Where is AMBRY testing done?
I actually had my blood drawn for the AMBRY test at the naval base in San Diego and then they mailed it off to the AMBRY lab for me. You can visit www.ambrygen.com for more information, or post a question on www.cysticfibrosis.com, AMBRY is a sponsor there and this guy named Steve who works for AMBRY is incredible and will help you out so much!
My results took about 4 weeks to get back to me.
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