anyone doing the advanced genetic testing?

[aweynsayl]

I guess state law varries, and WA only requires a few, but you can get a kit to use instead up to like 80 of them..... anyone doing this?

It's not toooo $$ ($80 for the most, I think).... but I'm so overloaded on testing and things.... ugh.

[celestialdreamer]

Are you talking about for the newborn screening? We are planning on just doing the normal newborn screen which for WA includes screening for the following: Biotinidase deficiency, Congential adrenal hyperplasia (CAH), Congenital hypothyroidism, Galactosemia, Hemoglobinopathies (including sickle cell disease), Homocystinuria, Maple syrup urine disease (MSUD), Medium chain acyl-coA dehydrogenase deficiency and of course Phenylketonuria (PKU). I have a friend who's son was found to have congenital hypothyroidism on the newborn screen which could have caused serious problems for him if they hadn't found out right away, so I'm all for doing the newborn screenings. Not sure on how necessary the test is for 80 diseases, but I could see that *if* your child did have one of those things it would be good to know in most cases ASAP. I haven't heard from our MW or ped about testing besides the stuff that they already do in WA, so I hadn't really thought about it more. Do you have any links about it?

[Wittyone]

CA expanded their newborn screening last summer. They went from screening for 4 disorders to over 40. Anyone who does newborn screening gets the full screen now. They don't anticipate finding a lot more children with disorders b/c the additional things they are screening for are so incredibly rare...however, like LHB said, if your baby is one of those rarities it's important to find out as early as possible.

[aweynsayl]

I do have links.... i wrote them somewhere.... if I find them, I will paste!