what happens if the cystic fibrosis test is inconclusive?

cassell_denise

my seven month old has suspected cystic fibrosis and has been to the hospital twice now for sweat tests, typically sweats buckets but when it comes to having the test, the first one he didnt sweat at all (but they did it first thing in the morning!).the second test he had in the afternoon and the blue line was broken so he did sweat but stopped and started so refused to send it for testing , they are now refering me to alder hey hospital (tests carried out in warrington, cheshire) to have the same tests done there what happens if he dosent sweat then? are there any other tests they can carry out just to put my mind at ease?

jmmlandrea · 01-01-2009, 08:05 PM

Start by asking some different doctors and insist on a test that is conclusive even if you must get multiple tests.

cloudberry33 · 01-06-2009, 12:51 AM

If the sweat test is inconclusive, ask for a genetic test to be done. Also have yourself and dad tested. Usually a buccal swab to be done to look for different CF genes. The buccal swab is a painless test where a small brush is brushed against the inside of the cheek. One lab that is good is the Ambry Lab in California which runs a very complete genetic profile for CF. CF genetics are complicated, as more than 1000 forms of the CF gene have been identified.Some labs test for a more complete profile than others. Each person with CF has a unique form of the disease. It is good to have CF identified ASAP, since there are many proactive things that can be done for babies with CF. ( giving them supplemental pancreatic enzymes, prophylactic chest PT, keeping them away from smoky places, giving the a dust free room, etc) Good luck!

fiona m · 01-20-2009, 08:13 AM

A genetic test (usually bloods) would show up most of the common cf mutations. Insist on another medical team/doctor if you feel you aren't being treated sympathetically.Is you child showing any other cf symptoms? Failure to thrive, weight loss, nasty, smelly stools? Repeated chest infections?These symptoms would indicate a higher risk of cf even with an inconclusive sweat test.Hope everything turns out ok. x.