RE: Genetic testing questions -SARA

[Guest guest]

Sara,

She should be tested for the exact ones your son has, seeing she is in

the same family. Whatever one you gave to him is the one she most needs

tested for if she is from your sister. If it is your S-I-L then the one

your husband has.

When my siblings got tested they went to the hsp. the cf clinic is in

and they tested them for the one I carry which they didn't have.

(Australia)

Genetic testing questions

I talked my sister into getting her daughter DNA tested for CF. She

took the news really well and took action. I was very surprised. I

assumed she might resist but she didn't. My niece will be four on

Christmas day and has been on an inhaler for a cough that does not

go away. Her weight is great but the cough has me worried. I told

my sister it is crucial that we know she is on the correct

medication so she can be healthy. I would hate for her lungs to be

damaged forever because an ingnorant pediatrician did not recommend

testing.

Her pediatrician is doing a blood test for 78 mutations. I am

concerned because it may not be testing for enough since Zach has

some weird ones. Does anyone know what a genetic test result would

be if someone has two rare mutations but only one is caught? Would

it be inconclusive or would it say that the person does not have cf

conclusively? I told my sister that if only one mutation is found

it might be important to have her tested for the full 1000 mutations

to be sure, but I don't want to jump the gun.

If anyone has experience with this let me know. I don't want to be

handing out bad advice to her. I think I have scared her silly, but

my intentions were good.

Sara - mommy of Zach 21 months Saturday and starting TOBI tonight!