Finally got blood drawn for genetic test

[peanut07]

It has been a long journey just to get this point. First the CF Center wouldn't use Quest so it was up to me get that one figured out. My ped had no idea what kind of test to order. She felt that since the first test was negative that he couldn't have it. I finally got into a geneticist who wanted to do the genzyme 90 screen which I said was useless since the 32 quest screen was negative. I wanted the full sequencing. Well she didn't know what to order. We finally got the two doctors to work with a genetic counselor at Quest and get the right test ordered. I should know the results in 8-12 weeks. Once we know his 2 mutations we can do family studies to find out if my other son has one or both and which ones my husband and myself have.

So far my son's health is still fine. He is almost 6 now. Chest xray was normal, PFTs are 100%. They did a battery off blood tests when the blood was drawn so I should have more information by next week on all those panels and tests.

So I just thought I would update on our journey since you were all very helpful with my initial questions. In a few months I will be able to updae once I get those results.

Thanks

 

[peanut07]

It has been a long journey just to get this point. First the CF Center wouldn't use Quest so it was up to me get that one figured out. My ped had no idea what kind of test to order. She felt that since the first test was negative that he couldn't have it. I finally got into a geneticist who wanted to do the genzyme 90 screen which I said was useless since the 32 quest screen was negative. I wanted the full sequencing. Well she didn't know what to order. We finally got the two doctors to work with a genetic counselor at Quest and get the right test ordered. I should know the results in 8-12 weeks. Once we know his 2 mutations we can do family studies to find out if my other son has one or both and which ones my husband and myself have.

So far my son's health is still fine. He is almost 6 now. Chest xray was normal, PFTs are 100%. They did a battery off blood tests when the blood was drawn so I should have more information by next week on all those panels and tests.

So I just thought I would update on our journey since you were all very helpful with my initial questions. In a few months I will be able to updae once I get those results.

Thanks

 

[peanut07]

It has been a long journey just to get this point. First the CF Center wouldn't use Quest so it was up to me get that one figured out. My ped had no idea what kind of test to order. She felt that since the first test was negative that he couldn't have it. I finally got into a geneticist who wanted to do the genzyme 90 screen which I said was useless since the 32 quest screen was negative. I wanted the full sequencing. Well she didn't know what to order. We finally got the two doctors to work with a genetic counselor at Quest and get the right test ordered. I should know the results in 8-12 weeks. Once we know his 2 mutations we can do family studies to find out if my other son has one or both and which ones my husband and myself have.

So far my son's health is still fine. He is almost 6 now. Chest xray was normal, PFTs are 100%. They did a battery off blood tests when the blood was drawn so I should have more information by next week on all those panels and tests.

So I just thought I would update on our journey since you were all very helpful with my initial questions. In a few months I will be able to updae once I get those results.

Thanks

 

[peanut07]

It has been a long journey just to get this point. First the CF Center wouldn't use Quest so it was up to me get that one figured out. My ped had no idea what kind of test to order. She felt that since the first test was negative that he couldn't have it. I finally got into a geneticist who wanted to do the genzyme 90 screen which I said was useless since the 32 quest screen was negative. I wanted the full sequencing. Well she didn't know what to order. We finally got the two doctors to work with a genetic counselor at Quest and get the right test ordered. I should know the results in 8-12 weeks. Once we know his 2 mutations we can do family studies to find out if my other son has one or both and which ones my husband and myself have.

So far my son's health is still fine. He is almost 6 now. Chest xray was normal, PFTs are 100%. They did a battery off blood tests when the blood was drawn so I should have more information by next week on all those panels and tests.

So I just thought I would update on our journey since you were all very helpful with my initial questions. In a few months I will be able to updae once I get those results.

Thanks

 

[peanut07]

It has been a long journey just to get this point. First the CF Center wouldn't use Quest so it was up to me get that one figured out. My ped had no idea what kind of test to order. She felt that since the first test was negative that he couldn't have it. I finally got into a geneticist who wanted to do the genzyme 90 screen which I said was useless since the 32 quest screen was negative. I wanted the full sequencing. Well she didn't know what to order. We finally got the two doctors to work with a genetic counselor at Quest and get the right test ordered. I should know the results in 8-12 weeks. Once we know his 2 mutations we can do family studies to find out if my other son has one or both and which ones my husband and myself have.

So far my son's health is still fine. He is almost 6 now. Chest xray was normal, PFTs are 100%. They did a battery off blood tests when the blood was drawn so I should have more information by next week on all those panels and tests.

So I just thought I would update on our journey since you were all very helpful with my initial questions. In a few months I will be able to updae once I get those results.

Thanks