Sweat Test after CFTR Test Negative

[mkpr13]

I am in my mid-forties and have problems with abdominal pain since I was a teenager. I have just been diagnosed with chronic pancreatitis. I had a genetic CFTR sequencing done with deletions/duplications via aCGH this past summer. The only variations that showed up in the tests were the following common variants.

v470m heterozygous
p1290p heterozygous
t854t heterozygous
g1463g heterozygous

I am going to meet with the gastroenterologist next week and I was wondering if it is appropriate to ask for a chloride sweat test before ruling out cystic fibrosis as a cause.

They have ruled out other causes such as alcohol, gallbladder (hida scan had an ejection fraction of 80%), autoimmune, hypercalcemia, high triglycerides, pancreas divisum, etc.

Sincerely,
Melissa

 

[Printer]

There a number of different CFRT test levels. There are almost 2000 known mutations, any two mutations will cause CF, and some tests only scan for 250 mutations, you do the math. You need to be seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CYSTIC FIBROSIS SPECIALIST.

Ask your PCP for a referral to your nearest APPROVED CF CENTER.

Bill

 

[mkpr13]

Bill,

Thanks for your reply.

I do not know how many mutations were checked in the test I had done but I think it was equivalent to the Ambry Amplified. I saw a medical geneticist before getting that test but since it came back negative, he did not do a post consultation. He just sent the results in the mail.

The GI doctor that am I am seeing is at a University with a certified CF clinic. I will ask him to be referred there. Your response makes me feel more confident about asking.

Sincerely,
Melissa

 

[Printer]

For example. The Massachusetts General Hospital has more than 2500 Doctors on staff. MGH is an Approved Cystic Fibrosis Center. MGH has less than 10 CF Specialists.

You need to go to an APPROVED CF CENTER and see a CF SPECIALIST.

Bill

 

[mkpr13]

I talked to the genetist at the CF center on the phone. She had me fax her the report from the genetic test. She said they tested all the genes and the only variants I had were the ones listed above which are common and do not cause CF. She said I that it is unlikely the pancreatitis is caused by CF so no sweat test.

Thanks.
Melissa