Sweat Test

hmw · Nov 19, 2009

My son Timothy had a negative sweat test (34) and he doesn't have symptoms consistent with CF- and Emily's CF team refused to just assume he didn't have CF after his sister was dx'ed until genetic testing cleared him, saying he could be largely asymptomatic for many years but preventative care was still very important in the meantime should he actually have CF. Insurance paid for his Ambry Amplified test no questions asked. His brother was also covered with a borderline sweat test (48.) I know the situation is different but he was covered with a negative result so wanted to mention it. And our insurance is not known to be the best.

I think before bothering with more carrier testing for your dh you should just go straight for the Ambry Amplified for your son. You really do need to know- take this from someone whose dd was NOT treated for many years, one major issue being growth failure. Being in the 10th percentile at an older age is not so easy to address after going on for years and can have serious repercussions for pulmonary health, as you already know.

I do not think insurance will give you any problems considering he has several symptoms that *could* be consistent with a CF diagnosis and he's already known to have at least one mutation. Ambry will also directly work with your insurance carrier to help get coverage.

hmw · Nov 19, 2009

My son Timothy had a negative sweat test (34) and he doesn't have symptoms consistent with CF- and Emily's CF team refused to just assume he didn't have CF after his sister was dx'ed until genetic testing cleared him, saying he could be largely asymptomatic for many years but preventative care was still very important in the meantime should he actually have CF. Insurance paid for his Ambry Amplified test no questions asked. His brother was also covered with a borderline sweat test (48.) I know the situation is different but he was covered with a negative result so wanted to mention it. And our insurance is not known to be the best.

I think before bothering with more carrier testing for your dh you should just go straight for the Ambry Amplified for your son. You really do need to know- take this from someone whose dd was NOT treated for many years, one major issue being growth failure. Being in the 10th percentile at an older age is not so easy to address after going on for years and can have serious repercussions for pulmonary health, as you already know.

I do not think insurance will give you any problems considering he has several symptoms that *could* be consistent with a CF diagnosis and he's already known to have at least one mutation. Ambry will also directly work with your insurance carrier to help get coverage.

hmw · Nov 19, 2009

My son Timothy had a negative sweat test (34) and he doesn't have symptoms consistent with CF- and Emily's CF team refused to just assume he didn't have CF after his sister was dx'ed until genetic testing cleared him, saying he could be largely asymptomatic for many years but preventative care was still very important in the meantime should he actually have CF. Insurance paid for his Ambry Amplified test no questions asked. His brother was also covered with a borderline sweat test (48.) I know the situation is different but he was covered with a negative result so wanted to mention it. And our insurance is not known to be the best.

I think before bothering with more carrier testing for your dh you should just go straight for the Ambry Amplified for your son. You really do need to know- take this from someone whose dd was NOT treated for many years, one major issue being growth failure. Being in the 10th percentile at an older age is not so easy to address after going on for years and can have serious repercussions for pulmonary health, as you already know.

I do not think insurance will give you any problems considering he has several symptoms that *could* be consistent with a CF diagnosis and he's already known to have at least one mutation. Ambry will also directly work with your insurance carrier to help get coverage.

hmw · Nov 19, 2009

My son Timothy had a negative sweat test (34) and he doesn't have symptoms consistent with CF- and Emily's CF team refused to just assume he didn't have CF after his sister was dx'ed until genetic testing cleared him, saying he could be largely asymptomatic for many years but preventative care was still very important in the meantime should he actually have CF. Insurance paid for his Ambry Amplified test no questions asked. His brother was also covered with a borderline sweat test (48.) I know the situation is different but he was covered with a negative result so wanted to mention it. And our insurance is not known to be the best.

I think before bothering with more carrier testing for your dh you should just go straight for the Ambry Amplified for your son. You really do need to know- take this from someone whose dd was NOT treated for many years, one major issue being growth failure. Being in the 10th percentile at an older age is not so easy to address after going on for years and can have serious repercussions for pulmonary health, as you already know.

I do not think insurance will give you any problems considering he has several symptoms that *could* be consistent with a CF diagnosis and he's already known to have at least one mutation. Ambry will also directly work with your insurance carrier to help get coverage.

hmw · Nov 19, 2009

My son Timothy had a negative sweat test (34) and he doesn't have symptoms consistent with CF- and Emily's CF team refused to just assume he didn't have CF after his sister was dx'ed until genetic testing cleared him, saying he could be largely asymptomatic for many years but preventative care was still very important in the meantime should he actually have CF. Insurance paid for his Ambry Amplified test no questions asked. His brother was also covered with a borderline sweat test (48.) I know the situation is different but he was covered with a negative result so wanted to mention it. And our insurance is not known to be the best.
 
 I think before bothering with more carrier testing for your dh you should just go straight for the Ambry Amplified for your son. You really do need to know- take this from someone whose dd was NOT treated for many years, one major issue being growth failure. Being in the 10th percentile at an older age is not so easy to address after going on for years and can have serious repercussions for pulmonary health, as you already know.
 
 I do not think insurance will give you any problems considering he has several symptoms that *could* be consistent with a CF diagnosis and he's already known to have at least one mutation. Ambry will also directly work with your insurance carrier to help get coverage.

LouLou · Nov 19, 2009

I did get both tests done on one day. For 2 reasons, 1) I wanted to reduce exposure to hospital germs for me and my ds. and 2) I knew I wouldn't be satisfied with just sweat test.

I actually tried to skip sweat and go directly to genetic but CHOP encouraged me to get sweat because it shows CFTR function unlike genetic.

Regarding the price it will be between $2-3K. Do not contact your insurance company yourself. They will possibly red flag your account as "not medically necessary."

If the request comes from the doctor it will likely be covered and I would think they can find out by submitting the charges in advance to see if they will be covered.

So it sounds like you just need to convince your cf doctor to do both tests. If Alex did have cf would he go to your doctor? I ask because maybe you should be working with the pedi cf center instead. Be very clear you want him sequenced NOT PANEL TESTED.

Regarding your husband, my husband was also in denial. Once we got the diagnosis he was very proactive though but until then he remained very positive that he nor his son were cf positive. And he should as he has 40 first cousins- non with cf or symptoms but could they have ds's mutation ...absolutely.

What I would do is make plans for the gentic test and then just tell husband it's what is being done. You need to do it for peace of mind. If he can't understand that then work around him just as you would a test you felt you needed.

They will just need a small amount of blood. No biggie.

BTW, our test was done through Genzyme not Ambry. I believe Quest also tests for over 1000 muts but Ambry is still the gold standard.

LouLou · Nov 19, 2009

I did get both tests done on one day. For 2 reasons, 1) I wanted to reduce exposure to hospital germs for me and my ds. and 2) I knew I wouldn't be satisfied with just sweat test.

I actually tried to skip sweat and go directly to genetic but CHOP encouraged me to get sweat because it shows CFTR function unlike genetic.

Regarding the price it will be between $2-3K. Do not contact your insurance company yourself. They will possibly red flag your account as "not medically necessary."

If the request comes from the doctor it will likely be covered and I would think they can find out by submitting the charges in advance to see if they will be covered.

So it sounds like you just need to convince your cf doctor to do both tests. If Alex did have cf would he go to your doctor? I ask because maybe you should be working with the pedi cf center instead. Be very clear you want him sequenced NOT PANEL TESTED.

Regarding your husband, my husband was also in denial. Once we got the diagnosis he was very proactive though but until then he remained very positive that he nor his son were cf positive. And he should as he has 40 first cousins- non with cf or symptoms but could they have ds's mutation ...absolutely.

What I would do is make plans for the gentic test and then just tell husband it's what is being done. You need to do it for peace of mind. If he can't understand that then work around him just as you would a test you felt you needed.

They will just need a small amount of blood. No biggie.

BTW, our test was done through Genzyme not Ambry. I believe Quest also tests for over 1000 muts but Ambry is still the gold standard.

LouLou · Nov 19, 2009

I did get both tests done on one day. For 2 reasons, 1) I wanted to reduce exposure to hospital germs for me and my ds. and 2) I knew I wouldn't be satisfied with just sweat test.

I actually tried to skip sweat and go directly to genetic but CHOP encouraged me to get sweat because it shows CFTR function unlike genetic.

Regarding the price it will be between $2-3K. Do not contact your insurance company yourself. They will possibly red flag your account as "not medically necessary."

If the request comes from the doctor it will likely be covered and I would think they can find out by submitting the charges in advance to see if they will be covered.

So it sounds like you just need to convince your cf doctor to do both tests. If Alex did have cf would he go to your doctor? I ask because maybe you should be working with the pedi cf center instead. Be very clear you want him sequenced NOT PANEL TESTED.

Regarding your husband, my husband was also in denial. Once we got the diagnosis he was very proactive though but until then he remained very positive that he nor his son were cf positive. And he should as he has 40 first cousins- non with cf or symptoms but could they have ds's mutation ...absolutely.

What I would do is make plans for the gentic test and then just tell husband it's what is being done. You need to do it for peace of mind. If he can't understand that then work around him just as you would a test you felt you needed.

They will just need a small amount of blood. No biggie.

BTW, our test was done through Genzyme not Ambry. I believe Quest also tests for over 1000 muts but Ambry is still the gold standard.

LouLou · Nov 19, 2009

I did get both tests done on one day. For 2 reasons, 1) I wanted to reduce exposure to hospital germs for me and my ds. and 2) I knew I wouldn't be satisfied with just sweat test.

I actually tried to skip sweat and go directly to genetic but CHOP encouraged me to get sweat because it shows CFTR function unlike genetic.

Regarding the price it will be between $2-3K. Do not contact your insurance company yourself. They will possibly red flag your account as "not medically necessary."

If the request comes from the doctor it will likely be covered and I would think they can find out by submitting the charges in advance to see if they will be covered.

So it sounds like you just need to convince your cf doctor to do both tests. If Alex did have cf would he go to your doctor? I ask because maybe you should be working with the pedi cf center instead. Be very clear you want him sequenced NOT PANEL TESTED.

Regarding your husband, my husband was also in denial. Once we got the diagnosis he was very proactive though but until then he remained very positive that he nor his son were cf positive. And he should as he has 40 first cousins- non with cf or symptoms but could they have ds's mutation ...absolutely.

What I would do is make plans for the gentic test and then just tell husband it's what is being done. You need to do it for peace of mind. If he can't understand that then work around him just as you would a test you felt you needed.

They will just need a small amount of blood. No biggie.

BTW, our test was done through Genzyme not Ambry. I believe Quest also tests for over 1000 muts but Ambry is still the gold standard.

LouLou · Nov 19, 2009

I did get both tests done on one day. For 2 reasons, 1) I wanted to reduce exposure to hospital germs for me and my ds. and 2) I knew I wouldn't be satisfied with just sweat test.
 
 I actually tried to skip sweat and go directly to genetic but CHOP encouraged me to get sweat because it shows CFTR function unlike genetic.
 
 Regarding the price it will be between $2-3K. Do not contact your insurance company yourself. They will possibly red flag your account as "not medically necessary."
 
 If the request comes from the doctor it will likely be covered and I would think they can find out by submitting the charges in advance to see if they will be covered.
 
 So it sounds like you just need to convince your cf doctor to do both tests. If Alex did have cf would he go to your doctor? I ask because maybe you should be working with the pedi cf center instead. Be very clear you want him sequenced NOT PANEL TESTED.
 
 Regarding your husband, my husband was also in denial. Once we got the diagnosis he was very proactive though but until then he remained very positive that he nor his son were cf positive. And he should as he has 40 first cousins- non with cf or symptoms but could they have ds's mutation ...absolutely.
 
 What I would do is make plans for the gentic test and then just tell husband it's what is being done. You need to do it for peace of mind. If he can't understand that then work around him just as you would a test you felt you needed.
 
 They will just need a small amount of blood. No biggie.
 
 BTW, our test was done through Genzyme not Ambry. I believe Quest also tests for over 1000 muts but Ambry is still the gold standard.

hopesiris · Nov 19, 2009

hopesiris · Nov 19, 2009

hopesiris · Nov 19, 2009

hopesiris · Nov 19, 2009

hopesiris · Nov 19, 2009

Jeana · Nov 21, 2009