Need address for Amber test

[Guest guest]

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? Thanks in advance!!

Also Torsten I think she would like to get in this group can you help me to

get her set up? Thanks Deb A

[Guest guest]

The website for the Cystic Fibrosis test done by Ambry Genetics is

http://www.ambrygen.com/geneticpros.htm

For your friend to subscribe to cfparents, she should go to

http://groups.yahoo.com/group/cfparents

and click " Join this Group " in the upper right hand corner.

~

> 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? Thanks in

advance!!

> Also Torsten I think she would like to get in this group can you

help me to

> get her set up? Thanks Deb A

[Guest guest]

Deb:

I know sent the link to Ambry for CF testing, but here is a

link to Genzyme.

I know a woman with very rare CF genes -- found only in the French

Canadian population. Ambry's test, while extensive, failed finding her

mutations. Other than a testing center in Canada, only Genzyme's test

has ever been able catch her mutations (and she's been tested several

times by several different groups).

So, just in case the Ambry test cannot identify a gene, but all CF

symptoms are present, you might suggest she have DNA sent to Genzyme.

http://www.genzymegenetics.com/clinicalinfo/molgen/cystic.htm

Kim

Mom of (23 1/2 with cf and asthma) and (20 asthma no cf)

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 !!! DEB A

[Guest guest]

In a message dated 3/29/2003 8:53:40 AM Central Standard Time,

kimpayne@... writes:

> Deb:

>

> I know sent the link to Ambry for CF testing, but here is a

> link to Genzyme.

>

> I know a woman with very rare CF genes -- found only in the French

> Canadian population. Ambry's test, while extensive, failed finding her

> mutations. Other than a testing center in Canada, only Genzyme's test

> has ever been able catch her mutations (and she's been tested several

> times by several different groups).

>

> So, just in case the Ambry test cannot identify a gene, but all CF

> symptoms are present, you might suggest she have DNA sent to Genzyme.

>

> http://www.genzymegenetics.com/clinicalinfo/molgen/cystic.htm

>

> Kim

> Mom of (23 1/2 with cf and asthma) and (20 asthma no cf)

>

Thanks Kim!!!! I sent you the message. Now if we can get it figured on how

she can join this group will have it made. Deb A

[Guest guest]

--- Hi everyone, Ok this is totally confusing me! Ive told my story a

few times here, and our situation is the same as Debs friends. The dr

says he has it and we know hes a carrier of the one gene and they

have tried to test him 3 more times to find more than the 25 most

common but it was never done right they said because the kept

repeating the same 25 most common genes. A genetics dr said they were

doing it wrong and said it has to start at genezymes then on to

ambry's for the 2nd part then back to genzymes then they send the

results to my doctor. Right now the 4th test has left genezymes and

is at ambrys, The nurse called on wed. and asked if there was any way

to have the results back by fri for our 1st cf clinic appt and they

called her back and said no, not intill early this coming week. Thats

ok cuz his appt. isint till mon. not last friday like I thought. So

did it really have to go to both labs or could of genezymes have just

done it? Im soo confused. The 1st time they did the rare test after

finding out he was a carrier they came back and said it was neg. on

the rare test I was SOOO Happy then after reading his records I

relized it was the same test repeated and quickly called the dr. and

they only could tell me for some reason it was done wrong!! Talk

about a roller coaster, then they did it again to me, hopefully it

works out right this time. I just have to check myself to be sure and

I recomend everyone else do the same. Thanks- sorry so long,

hopefully someone reads it! Kari

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

> Deb:

>

> I know sent the link to Ambry for CF testing, but here is

a

> link to Genzyme.

>

> I know a woman with very rare CF genes -- found only in the French

> Canadian population. Ambry's test, while extensive, failed finding

her

> mutations. Other than a testing center in Canada, only Genzyme's

test

> has ever been able catch her mutations (and she's been tested

several

> times by several different groups).

>

> So, just in case the Ambry test cannot identify a gene, but all CF

> symptoms are present, you might suggest she have DNA sent to

Genzyme.

>

> http://www.genzymegenetics.com/clinicalinfo/molgen/cystic.htm

>

> Kim

> Mom of (23 1/2 with cf and asthma) and (20 asthma no

cf)

>

>

> 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?