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please help..IRT levels elevated-DNA mutation negative

E

enzvel

New member
Hello everyone,
I live in Italy and when my daughter was born almost two months ago she was screened for CF and her IRT levels were elevated. Then theyy tested DNA mutation and there was nothing found... Once she weighs about 5kg we are due to get a sweat test done. I noticed that the most common mutation is F508 which was also on her pannel and they she tested negative.
What are the chances her sweat test will be positive? What else could cause anincrease in IRT levels?
What symptoms should i be looking for in a newborn who may have CF?
 
E

enzvel

New member
Hello everyone,
I live in Italy and when my daughter was born almost two months ago she was screened for CF and her IRT levels were elevated. Then theyy tested DNA mutation and there was nothing found... Once she weighs about 5kg we are due to get a sweat test done. I noticed that the most common mutation is F508 which was also on her pannel and they she tested negative.
What are the chances her sweat test will be positive? What else could cause anincrease in IRT levels?
What symptoms should i be looking for in a newborn who may have CF?
 
R

Ratatosk

Administrator
Staff member
How many mutations did they test for? It's quite common for testing to only cover the most common mutations instead of the 1500 known mutations that exist. When DS was tested in here in the states they only tested for about 30 mutations. I believe being a carrier CAN cause higher IRT levels.

Symptoms could include poor weight gain (failure to thrive), loose stools...
 
R

Ratatosk

Administrator
Staff member
How many mutations did they test for? It's quite common for testing to only cover the most common mutations instead of the 1500 known mutations that exist. When DS was tested in here in the states they only tested for about 30 mutations. I believe being a carrier CAN cause higher IRT levels.

Symptoms could include poor weight gain (failure to thrive), loose stools...
 
M

Mommafirst

Guest
Well a carrier status can cause an elevated IRT level. The big issue is, as Liza says, how many mutations did they check. Yes F508 is the most common but its only one of nearly 2000. My daughter doesnt' have F508, but does have two Cf mutations.
 
M

Mommafirst

Guest
Well a carrier status can cause an elevated IRT level. The big issue is, as Liza says, how many mutations did they check. Yes F508 is the most common but its only one of nearly 2000. My daughter doesnt' have F508, but does have two Cf mutations.
 
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