Re: Need address for Amber test/Kari

[Guest guest]

Kari,

It sounds like your situation is really frustrating and it sounds

like a lot of running around.

I know in the case of my friend (30-something woman with CF), that

Ambry tried testing for her mutations, and then told her they don't

even have her mutations listed among all the mutations they scan for.

When Ambry tests her, nothing shows up. She's also been tested at two

separate CF Centers (at high-ranking university hospitals) and they

can't identify her mutations either. So far, only about 7-8 people in

the US (or maybe it's North America?) have been identified with her

mutations.

Interestingly, one of her mutations is known to be more suspectible to

culturing the B. cepacia bacteria. So you'd think someone could track

this mutation better...

But only Genzyme -- for some reason -- can identify the mutations. So

even if she started with Genzyme and then sent it to Ambry, Ambry

wouldn't be able to do anything.

Since she has her genes identified at Genzyme, I don't know why Ambry

can't (or doesn't) take that information and code it into whatever

system they use, thus increasing their mutation database. Maybe that's

too easy? I don't know how these things work.

I'm curious how many people living in the Louisiana area of

French-Canadian (Cajun) descent have sypmtoms of CF and have positive

sweat tests, but haven't been able to have their genes identified. I

told my friend that since she works closely with the NIH, she should

ask the NIH to do a study of the Louisiana Cajun population and run

their DHA through Genzyme.

Kim

> > I know this has been on her before but I am talking to a lady that

> > is having her son tested for CF and so far they can only find one

> CF

> > gene for him. She would like to have the Amber test done because

> it

> > will check more mutations then the normal DNA test. Can someone

> send

> > that to me?

[Guest guest]

--- Thanks Kim for responding, For some reason I didnt see this post

in my mailbox. I just happend to run by it in the archives.It all

sounds so confusing and scary for people in your friends situation

who cant get an awnser, good thing the sweat test shows up positive.

Some people tell me they have cf and have neg. sweat test. Thanks

again- Kari

In cfparents , " paynekimj " <kimpayne@c...> wrote:

> Kari,

>

> It sounds like your situation is really frustrating and it sounds

> like a lot of running around.

>

> I know in the case of my friend (30-something woman with CF), that

> Ambry tried testing for her mutations, and then told her they don't

> even have her mutations listed among all the mutations they scan

for.

> When Ambry tests her, nothing shows up. She's also been tested at

two

> separate CF Centers (at high-ranking university hospitals) and they

> can't identify her mutations either. So far, only about 7-8 people

in

> the US (or maybe it's North America?) have been identified with her

> mutations.

>

> Interestingly, one of her mutations is known to be more suspectible

to

> culturing the B. cepacia bacteria. So you'd think someone could

track

> this mutation better...

>

> But only Genzyme -- for some reason -- can identify the mutations.

So

> even if she started with Genzyme and then sent it to Ambry, Ambry

> wouldn't be able to do anything.

>

> Since she has her genes identified at Genzyme, I don't know why

Ambry

> can't (or doesn't) take that information and code it into whatever

> system they use, thus increasing their mutation database. Maybe

that's

> too easy? I don't know how these things work.

>

> I'm curious how many people living in the Louisiana area of

> French-Canadian (Cajun) descent have sypmtoms of CF and have

positive

> sweat tests, but haven't been able to have their genes identified.

I

> told my friend that since she works closely with the NIH, she

should

> ask the NIH to do a study of the Louisiana Cajun population and run

> their DHA through Genzyme.

>

> Kim

>

>

> > > I know this has been on her before but I am talking to a lady

that

> > > is having her son tested for CF and so far they can only find

one

> > CF

> > > gene for him. She would like to have the Amber test done

because

> > it

> > > will check more mutations then the normal DNA test. Can someone

> > send

> > > that to me?