I started posting all of this earlier but it took a while to type it all up <img src="i/expressions/face-icon-small-smile.gif" border="0"> . I have experienced this both in getting the test for myself, my siblings (in progress), and this year for my daughter which was a nightmare and how I learned all of this. If you have any questions please feel free to PM me.
The ambry website is:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/
">http://www.ambrygen.com/
</a>
The toll free number is 1-866-262-7943 (they are very helpful)
You can download an 'insurance pre-verification request form'. Fill out your portion and fax back to them. They will contact your insurance to find out if it is covered and call/fax you back with the information, generally within 4 hours.
The ambry CF Amplified panel is, to my knowledge, the only one able to test for every mutation, do not settle for the others because if your child is 'borderline' they may have a rarer mutation that the basic panel will not pick up.
The cost of the CF Amplified for insurance is $3,100 however, if they were to deny your claim you can work out a payment plan with Ambry for $1,300 total cost. In addition I just recently found out (this was confirmed by Steve from Ambry genetics) that they can do a check for any specific mutation for $125. This would really only be useful in the event of siblings where one was previously diagnosed, since assuming they have the same parents you would know the two possibilities.
Additional Loophole: Your plan may say it is denied due to being out of network. I found a loophole to this for my insurance. As long as I had it drawn at an in network hospital that couldn't run the test (of course no one else can run it) and they had to send it out then it would be covered. The trick is you have to have proof that it was drawn in network and sent out of network because that is the only option and most hospitals if doing a draw for something they cant run will just do a 'courtesy draw' meaning they don't bill you. I had to find a hospital willing to bill for the draw and tell them I would gladly pay for the draw should it be denied (since it is not something normally billed to insurance) the cost was only $17. My regular large hospital was not willing to bill for a draw they said they could not since it is always a 'courtesy' so I called smaller hospitals until I found one willing to work with me.
Many pediatricians are just ignorant when it comes to borderline sweat tests. Anything in the borderline area should be followed by a genetic test (in my opinion and most doctors are starting to realize this slowly but surely). Under 40 is considered negative, 40-60 is borderline, and over 60 is positive for CF. I have had 6 test results over the course of my life before being diagnosed ranging from 36-56. If it were my child I would insist on a genetic test. Many times since they don't full understand the potential for 'borderline' individuals to have CF or for older or adult diagnosis they will tell you it is unnecessary. The pediatrician that I forced into ordering my daughter's test later when questioned by the insurance folded and said it was not needed because she 'wasn't showing signs' of the disease, I did not show signs for a long time so I had to educate her. This same thing happened with my sibling's doctor who proceeded to inform my mother there was no such thing as adult diagnosis<img src="i/expressions/face-icon-small-wink.gif" border="0">.
