How to Test for CF?

[gimtermain]

I initially had a + sweat test as a child, and later tested negative with a sweat test. I was really sick as a baby, in the hospital with steroids for like 2 months. I got a little better, overnight, my mom says.

Now I am 23. I have consistent digestive problems and everyonce in a while I get some lung issues--just tighten up, chest pain, et cetera. Don't really cough up a bunch of phlegm, although it feels like i could.

How should I go about testing for CF? Im nervous to do it, I keep telling myself I should, but its the ignorance bliss sort of thing. Some days I feel really good, others I feel really really poor and struggle with pain in my digestive system.

Should I get a sweat test?
Should I get a genetic test?

Beacuase I feel that if I do have cf (which is possible considering my health as a child, a positive sweat test, and literally all of my grandparents are of northern eurpoean decent--Im mainly french) it is likely a milder form of CF considering I have never had any medication or long-term treatment.

Would it be better for me to get a genetic test initially, considering I likely would have a milder form of CF? Or would a sweat test be reliable in determining any CF realated stuff going on? My digestive systems sucks, badly, and I have a hunch CF is involved.
Any suggestions would be great. I am just not sure if I should get a genetic test right away, I get my insureance from my job in about 2 months... so i plan to wait til then.

Thanks for any advice, this forum is amazing.

 

[gimtermain]

I initially had a + sweat test as a child, and later tested negative with a sweat test. I was really sick as a baby, in the hospital with steroids for like 2 months. I got a little better, overnight, my mom says.

Now I am 23. I have consistent digestive problems and everyonce in a while I get some lung issues--just tighten up, chest pain, et cetera. Don't really cough up a bunch of phlegm, although it feels like i could.

How should I go about testing for CF? Im nervous to do it, I keep telling myself I should, but its the ignorance bliss sort of thing. Some days I feel really good, others I feel really really poor and struggle with pain in my digestive system.

Should I get a sweat test?
Should I get a genetic test?

Beacuase I feel that if I do have cf (which is possible considering my health as a child, a positive sweat test, and literally all of my grandparents are of northern eurpoean decent--Im mainly french) it is likely a milder form of CF considering I have never had any medication or long-term treatment.

Would it be better for me to get a genetic test initially, considering I likely would have a milder form of CF? Or would a sweat test be reliable in determining any CF realated stuff going on? My digestive systems sucks, badly, and I have a hunch CF is involved.
Any suggestions would be great. I am just not sure if I should get a genetic test right away, I get my insureance from my job in about 2 months... so i plan to wait til then.

Thanks for any advice, this forum is amazing.

 

[gimtermain]

I initially had a + sweat test as a child, and later tested negative with a sweat test. I was really sick as a baby, in the hospital with steroids for like 2 months. I got a little better, overnight, my mom says.
<br />
<br />Now I am 23. I have consistent digestive problems and everyonce in a while I get some lung issues--just tighten up, chest pain, et cetera. Don't really cough up a bunch of phlegm, although it feels like i could.
<br />
<br />How should I go about testing for CF? Im nervous to do it, I keep telling myself I should, but its the ignorance bliss sort of thing. Some days I feel really good, others I feel really really poor and struggle with pain in my digestive system.
<br />
<br />Should I get a sweat test?
<br />Should I get a genetic test?
<br />
<br />Beacuase I feel that if I do have cf (which is possible considering my health as a child, a positive sweat test, and literally all of my grandparents are of northern eurpoean decent--Im mainly french) it is likely a milder form of CF considering I have never had any medication or long-term treatment.
<br />
<br />Would it be better for me to get a genetic test initially, considering I likely would have a milder form of CF? Or would a sweat test be reliable in determining any CF realated stuff going on? My digestive systems sucks, badly, and I have a hunch CF is involved.
<br />Any suggestions would be great. I am just not sure if I should get a genetic test right away, I get my insureance from my job in about 2 months... so i plan to wait til then.
<br />
<br />Thanks for any advice, this forum is amazing.

 

[LouLou]

Are you a man or a woman? Either way get life insurance...more if you are a man. If you get diagnosed you won't be able to get it. So get it before. They can't drop you once you have it.

Then get the genetic SEQUENCING test. Ambry is best but Genzyme is good too. Quest might have a sequencing test too. Stay away from PANEL tests and make sure you are tested for over 1000 mutations. Ambry and others do it in a step up fashion...meaning they first test you for all the common mutations and then step up only if they don't find something in one of the less expensive tests. Just make sure your lab slip authorizes them to keep looking through deletions and __________ (forgetting this word). You probably should hav the it ordered through a cf center so you make sure the paperwork is completed correctly. Insist on genetic testing. They may make you meet with a geneticist first. You'd only need to do a sweat test first if your insurance requires it. Also, the cf center might say it is necesssary (because it shows chloride channel function) and if so they will want to do it before b/c it isn't covered after genetic testing. If this is the case you can ask to have them both scheduled for the same day. Be insistant with a smile but not bossy & bitchy. Your lack of pulmonary involvement may make some think you are an unlikely candidate for cf but I think it's worth checking out. Prevention is KEY!

 

[LouLou]

Are you a man or a woman? Either way get life insurance...more if you are a man. If you get diagnosed you won't be able to get it. So get it before. They can't drop you once you have it.

Then get the genetic SEQUENCING test. Ambry is best but Genzyme is good too. Quest might have a sequencing test too. Stay away from PANEL tests and make sure you are tested for over 1000 mutations. Ambry and others do it in a step up fashion...meaning they first test you for all the common mutations and then step up only if they don't find something in one of the less expensive tests. Just make sure your lab slip authorizes them to keep looking through deletions and __________ (forgetting this word). You probably should hav the it ordered through a cf center so you make sure the paperwork is completed correctly. Insist on genetic testing. They may make you meet with a geneticist first. You'd only need to do a sweat test first if your insurance requires it. Also, the cf center might say it is necesssary (because it shows chloride channel function) and if so they will want to do it before b/c it isn't covered after genetic testing. If this is the case you can ask to have them both scheduled for the same day. Be insistant with a smile but not bossy & bitchy. Your lack of pulmonary involvement may make some think you are an unlikely candidate for cf but I think it's worth checking out. Prevention is KEY!

 

[LouLou]

Are you a man or a woman? Either way get life insurance...more if you are a man. If you get diagnosed you won't be able to get it. So get it before. They can't drop you once you have it.
<br />
<br />Then get the genetic SEQUENCING test. Ambry is best but Genzyme is good too. Quest might have a sequencing test too. Stay away from PANEL tests and make sure you are tested for over 1000 mutations. Ambry and others do it in a step up fashion...meaning they first test you for all the common mutations and then step up only if they don't find something in one of the less expensive tests. Just make sure your lab slip authorizes them to keep looking through deletions and __________ (forgetting this word). You probably should hav the it ordered through a cf center so you make sure the paperwork is completed correctly. Insist on genetic testing. They may make you meet with a geneticist first. You'd only need to do a sweat test first if your insurance requires it. Also, the cf center might say it is necesssary (because it shows chloride channel function) and if so they will want to do it before b/c it isn't covered after genetic testing. If this is the case you can ask to have them both scheduled for the same day. Be insistant with a smile but not bossy & bitchy. Your lack of pulmonary involvement may make some think you are an unlikely candidate for cf but I think it's worth checking out. Prevention is KEY!