New to CF ? re testing

[peanut07]

I talked to the doctor and was told the Quest test was useless. Unfortunately because we cannot afford the Ambry test he will not be getting testing. On the Quest Diagnostics site it does say they offer: Complete rare mutation analysis, entire gene sequence and CFTR gene duplicatin and deletion, along with several other tests including a 32 mutation screen that we have already been negative on. This is exactly what Ambry does so I don't understand how one is usless vs the other. This is very frustrating. I would love to have the Ambry test done but to be told they will not value the results of the Quest test seems harsh.

Sandy


Hello we are new to CF and I have testing ?s About 6mo my 5yo had a routine blood test to check for vit/min levels etc. Test came back showing low blood protein and iron so my ped sent us to a gastro. Gastro said it could be malabsorbstion and ran a blood test for Celiac and a stool test. Both came back negative so she said it could be CF. She sent us for a sweat test which was positive. We then went to a Pul, who ran some more tests all normal. She said the sweat test could have been inaccurate due to testing /lab mistakes but preferred we go straight to gen testing than re do it. She then requested ambry genetic testing. Both my Husband and I have screen neg for CF so they figure a less common mutation. My insurance denied Ambry so I was wondering since Quest is their contract lab if I could request Quest perform the test since looking at their website it appears they have a comprehensive test as well. He has never been on antibiotics, always very healthy, we have never even gone to the ped aside from annual well checks. This is all very sudden and unexpected. He has remained on a steady growth curve of 25% since birth which is in line size wise with immediate and extended family. They have him on 1 Creon with meals, she said this wouldn't hurt him if he didn't need it and they felt just in case was a good 1st step based on the low blood protein.

So I know this a lot of info but I guess my main ? is should I feel okay with Quest should they approave it or do I pay out of pocket for Ambry.

Thanks, Sandy

 

[peanut07]

I talked to the doctor and was told the Quest test was useless. Unfortunately because we cannot afford the Ambry test he will not be getting testing. On the Quest Diagnostics site it does say they offer: Complete rare mutation analysis, entire gene sequence and CFTR gene duplicatin and deletion, along with several other tests including a 32 mutation screen that we have already been negative on. This is exactly what Ambry does so I don't understand how one is usless vs the other. This is very frustrating. I would love to have the Ambry test done but to be told they will not value the results of the Quest test seems harsh.

Sandy


Hello we are new to CF and I have testing ?s About 6mo my 5yo had a routine blood test to check for vit/min levels etc. Test came back showing low blood protein and iron so my ped sent us to a gastro. Gastro said it could be malabsorbstion and ran a blood test for Celiac and a stool test. Both came back negative so she said it could be CF. She sent us for a sweat test which was positive. We then went to a Pul, who ran some more tests all normal. She said the sweat test could have been inaccurate due to testing /lab mistakes but preferred we go straight to gen testing than re do it. She then requested ambry genetic testing. Both my Husband and I have screen neg for CF so they figure a less common mutation. My insurance denied Ambry so I was wondering since Quest is their contract lab if I could request Quest perform the test since looking at their website it appears they have a comprehensive test as well. He has never been on antibiotics, always very healthy, we have never even gone to the ped aside from annual well checks. This is all very sudden and unexpected. He has remained on a steady growth curve of 25% since birth which is in line size wise with immediate and extended family. They have him on 1 Creon with meals, she said this wouldn't hurt him if he didn't need it and they felt just in case was a good 1st step based on the low blood protein.

So I know this a lot of info but I guess my main ? is should I feel okay with Quest should they approave it or do I pay out of pocket for Ambry.

Thanks, Sandy

 

[peanut07]

I talked to the doctor and was told the Quest test was useless. Unfortunately because we cannot afford the Ambry test he will not be getting testing. On the Quest Diagnostics site it does say they offer: Complete rare mutation analysis, entire gene sequence and CFTR gene duplicatin and deletion, along with several other tests including a 32 mutation screen that we have already been negative on. This is exactly what Ambry does so I don't understand how one is usless vs the other. This is very frustrating. I would love to have the Ambry test done but to be told they will not value the results of the Quest test seems harsh.

Sandy


Hello we are new to CF and I have testing ?s About 6mo my 5yo had a routine blood test to check for vit/min levels etc. Test came back showing low blood protein and iron so my ped sent us to a gastro. Gastro said it could be malabsorbstion and ran a blood test for Celiac and a stool test. Both came back negative so she said it could be CF. She sent us for a sweat test which was positive. We then went to a Pul, who ran some more tests all normal. She said the sweat test could have been inaccurate due to testing /lab mistakes but preferred we go straight to gen testing than re do it. She then requested ambry genetic testing. Both my Husband and I have screen neg for CF so they figure a less common mutation. My insurance denied Ambry so I was wondering since Quest is their contract lab if I could request Quest perform the test since looking at their website it appears they have a comprehensive test as well. He has never been on antibiotics, always very healthy, we have never even gone to the ped aside from annual well checks. This is all very sudden and unexpected. He has remained on a steady growth curve of 25% since birth which is in line size wise with immediate and extended family. They have him on 1 Creon with meals, she said this wouldn't hurt him if he didn't need it and they felt just in case was a good 1st step based on the low blood protein.

So I know this a lot of info but I guess my main ? is should I feel okay with Quest should they approave it or do I pay out of pocket for Ambry.

Thanks, Sandy

 

[peanut07]

I am sorry I should clarify, that the blood test was done 6months ago on my 5yo not when he was 6 months old.

Sandy

 

[peanut07]

I am sorry I should clarify, that the blood test was done 6months ago on my 5yo not when he was 6 months old.

Sandy

 

[peanut07]

I am sorry I should clarify, that the blood test was done 6months ago on my 5yo not when he was 6 months old.

Sandy

 

[concernedmom]

The tests are comparable. I <b>believe</b> Ambry is more comprehensive if you add the deletion testing. But, if the Quest testing is negative, or only shows one mutation, you may then have basis for the Ambry testing and insurance may approve it. Another option would be to re-do the sweat test and do a cheaper panel. Then, you should have basis for the Ambry testing if the less comprehensive panel comes back negative. Good luck. HTH.

 

[concernedmom]

The tests are comparable. I <b>believe</b> Ambry is more comprehensive if you add the deletion testing. But, if the Quest testing is negative, or only shows one mutation, you may then have basis for the Ambry testing and insurance may approve it. Another option would be to re-do the sweat test and do a cheaper panel. Then, you should have basis for the Ambry testing if the less comprehensive panel comes back negative. Good luck. HTH.

 

[concernedmom]

The tests are comparable. I <b>believe</b> Ambry is more comprehensive if you add the deletion testing. But, if the Quest testing is negative, or only shows one mutation, you may then have basis for the Ambry testing and insurance may approve it. Another option would be to re-do the sweat test and do a cheaper panel. Then, you should have basis for the Ambry testing if the less comprehensive panel comes back negative. Good luck. HTH.

 

[julie]

Yes, they are comparable to an extent, and this problem unfortunately happens pretty often. Based on my personal research, ambry's is slightly more extensive. However, if your ins. won't pay for it, that becomes a mute point.

Someone else on this site couldn't get ambry paid for with her ins. but they did authorize Quest, and quest found her 2 mutations. It's better than doing nothing at all. I'd start with quest rather than paying 100% out of pocket.

 

[julie]

Yes, they are comparable to an extent, and this problem unfortunately happens pretty often. Based on my personal research, ambry's is slightly more extensive. However, if your ins. won't pay for it, that becomes a mute point.

Someone else on this site couldn't get ambry paid for with her ins. but they did authorize Quest, and quest found her 2 mutations. It's better than doing nothing at all. I'd start with quest rather than paying 100% out of pocket.

 

[julie]

Yes, they are comparable to an extent, and this problem unfortunately happens pretty often. Based on my personal research, ambry's is slightly more extensive. However, if your ins. won't pay for it, that becomes a mute point.

Someone else on this site couldn't get ambry paid for with her ins. but they did authorize Quest, and quest found her 2 mutations. It's better than doing nothing at all. I'd start with quest rather than paying 100% out of pocket.

 

[peanut07]

Thanks for your responses. I edited my post above basically saying the doctors don't think Quests test is comparable at all and they will not value the results of it, should I have it done. I have posted a question to the Ambry thread. Perhaps he will be able to offer some insight on how they compare. I talked with Quest and they told me their test is comparable and they also now offer a duplication and deletion testing that Ambry does that goes beyond just the sequencing of the gene. It is so confusing to me.

I am going to go to my pediatrition and ask for her help.

Thanks,
Sandy

 

[peanut07]

Thanks for your responses. I edited my post above basically saying the doctors don't think Quests test is comparable at all and they will not value the results of it, should I have it done. I have posted a question to the Ambry thread. Perhaps he will be able to offer some insight on how they compare. I talked with Quest and they told me their test is comparable and they also now offer a duplication and deletion testing that Ambry does that goes beyond just the sequencing of the gene. It is so confusing to me.

I am going to go to my pediatrition and ask for her help.

Thanks,
Sandy

 

[peanut07]

Thanks for your responses. I edited my post above basically saying the doctors don't think Quests test is comparable at all and they will not value the results of it, should I have it done. I have posted a question to the Ambry thread. Perhaps he will be able to offer some insight on how they compare. I talked with Quest and they told me their test is comparable and they also now offer a duplication and deletion testing that Ambry does that goes beyond just the sequencing of the gene. It is so confusing to me.

I am going to go to my pediatrition and ask for her help.

Thanks,
Sandy