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Prliminary amnio results!!!!!

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Hi,

I just got off the phone with the genetic counselor and have received some news.

She spoke with Genzyme and has gotten a preliminary result for the CF testing on

the baby.

They say that, thus far he is definitely at least a carrier, but they can only

find one mutation. They will double check the result against 's result

when they finish her test and see if he has the less common mutation that

also carries. But so far they think he might only be a carrier. We are not

getting our hopes up just yet though since, the comparison has not been done,

but at least we have now seen some progress toward an answer. We are hopeful

though, since the second mutation should be found with the test that they are

using.............

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Dear ,

I will be holding you & yours in my special thoughts & also have many

friends also going me. Take care & this precious wee one will be fine ,

either way

LOVE & HUGS, grandmoMBEv

Prliminary amnio results!!!!!

Hi,

I just got off the phone with the genetic counselor and have received

some news. She spoke with Genzyme and has gotten a preliminary result

for the CF testing on the baby.

They say that, thus far he is definitely at least a carrier, but they

can only find one mutation. They will double check the result against

's result when they finish her test and see if he has the less

common mutation that also carries. But so far they think he

might only be a carrier. We are not getting our hopes up just yet

though since, the comparison has not been done, but at least we have now

seen some progress toward an answer. We are hopeful though, since the

second mutation should be found with the test that they are

using.............

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,

Hopes and special thoughts to you. Waiting is always difficult, but things will

be ok no matter what.

Love,

Jill

Prliminary amnio results!!!!!

Hi,

I just got off the phone with the genetic counselor and have received some

news. She spoke with Genzyme and has gotten a preliminary result for the CF

testing on the baby.

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We are hopeful though, since the second mutation should be found

with the test that they are using.............

>

>

>

Genzyme's test only looks for 78 mutations. It did find the most

common of our son's mutations but it wasn't until we had the Ambry

test done that it found the second rare mutation clinching the

diagnosis.

jan

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Hi

Good news about the amnio, hope all goes well.

Steph - mum to 2 3/4 with CF

ANDREA FITTING wrote:

Hi,

I just got off the phone with the genetic counselor and have received some news.

She spoke with Genzyme and has gotten a preliminary result for the CF testing on

the baby.

They say that, thus far he is definitely at least a carrier, but they can only

find one mutation. They will double check the result against 's result

when they finish her test and see if he has the less common mutation that

also carries. But so far they think he might only be a carrier. We are not

getting our hopes up just yet though since, the comparison has not been done,

but at least we have now seen some progress toward an answer. We are hopeful

though, since the second mutation should be found with the test that they are

using.............

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Jan,

The current one tests for 85, and they found both of 's when they were

only testing for 70. So, they should be able to find The second one if it is

there......we hope.

Message -----

To: cfparents <mailto:cfparents >

Sent: Tuesday, February 24, 2004 10:15 PM

Subject: Re: Prliminary amnio results!!!!!

We are hopeful though, since the second mutation should be found

with the test that they are using.............

>

>

>

Genzyme's test only looks for 78 mutations. It did find the most

common of our son's mutations but it wasn't until we had the Ambry

test done that it found the second rare mutation clinching the

diagnosis.

jan

-------------------------------------------

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be construed as medical advice.

PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS.

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