Isaac was tested through Genzyme. I believe it's just Ambry, Quest and Genzyme doing the sequencing type testing. Ambry leads the way with the most extensive testing. I believe they are up to 1500 where Genzyme is at 1200 mutations.
Wendy, I think the testing you are doing and the way you are going about it is good. You might just double check which lab it will be sent to. If you want to be sure it's managed correctly consider going through a children's cf center. They are used to processing these all the time. This is the way I did it. I went through Children's Hosp. of PA (CHOP) and they made me do a sweat test as well as the genetic test. I insisted that they be completed the same day b/c I like to minimize my exposure to hospital germs. His sweat test came out negative.
Regarding insurance, I don't know how it will be covered but I'm sure since it turned up mutations (unfortunately) that it will be covered because it will be looked at as necessary. Bottom line, with my history (and yours) of cf, it would be ludicrous for them not to cover testing my child (or yours). I didn't call and ask about coverage because from my experience this can cause them to question whether they should cover something. I'd say go for it... of course do the necessary paper work that your ins. requires - for me with my Aetna HMO I had to have a prescription and referrel for the sweat test and just a referrel for the genetic. Then if they end up declining it - appeal it. Write a letter about how the key to management of cf is preventative care. Waiting for symptoms would cost THEM a lot more money than getting this test to possibly prevent symptoms from arising for quite some time should cf be found.
You're a good mama for getting to the bottom of this. I know it's sort of painful and doom-and-gloom but as you know it is so much better to know...especially before they even show symptoms
The way I looked at it was that I wanted to "close the book" on cf in Isaac never to worry again. Unfortunately it didn't turn out that way but I am glad I know. Let us know and feel free to ask me more questions.
Wendy, I think the testing you are doing and the way you are going about it is good. You might just double check which lab it will be sent to. If you want to be sure it's managed correctly consider going through a children's cf center. They are used to processing these all the time. This is the way I did it. I went through Children's Hosp. of PA (CHOP) and they made me do a sweat test as well as the genetic test. I insisted that they be completed the same day b/c I like to minimize my exposure to hospital germs. His sweat test came out negative.
Regarding insurance, I don't know how it will be covered but I'm sure since it turned up mutations (unfortunately) that it will be covered because it will be looked at as necessary. Bottom line, with my history (and yours) of cf, it would be ludicrous for them not to cover testing my child (or yours). I didn't call and ask about coverage because from my experience this can cause them to question whether they should cover something. I'd say go for it... of course do the necessary paper work that your ins. requires - for me with my Aetna HMO I had to have a prescription and referrel for the sweat test and just a referrel for the genetic. Then if they end up declining it - appeal it. Write a letter about how the key to management of cf is preventative care. Waiting for symptoms would cost THEM a lot more money than getting this test to possibly prevent symptoms from arising for quite some time should cf be found.
You're a good mama for getting to the bottom of this. I know it's sort of painful and doom-and-gloom but as you know it is so much better to know...especially before they even show symptoms
The way I looked at it was that I wanted to "close the book" on cf in Isaac never to worry again. Unfortunately it didn't turn out that way but I am glad I know. Let us know and feel free to ask me more questions.