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Hi,

I was wondering if anyone had been given the option of having further testing

for their CF kid or themselves by Genzyme? I had requested that our amniotic

fluid be sent to Genzyme because they found both of 's mutations (one

common and one less common) Genzyme wanted 's blood to test as well as the

fluid and my blood, but 's blood test wouldn't be covered by insurance

($300.00 extra is too steep right now for us), so we are just doing mine and the

baby's amniotic fluid. However, Genzyme offered to do their new test on

for free. We go on Thursday to the place where they did the amnio and they will

let her do a " swish and spit " type of collection of her cells from her mouth.

The hospital then sends it right back to Genzyme and they will do the new test

on her. I don't know why they want to do it, but they are not charging for it

and they say that since the technology has changed in the last few years that

they will get more info, and it will be helpful with the amnio info.........

Has anyone heard of this or done it? What can it tell us that is different than

the " Genzyme 70 " test that they used to do?

somewhat confused, but willing to do it if it will help to determine things for

the new baby

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I could not help myself and reply to your post publicly! When I gave

birth to my daughter (Sept 2, 2003)we did not know if she had CF or

not. Genzyme was the company who was to do the testing. We used the

cord blood. Without going into detail, I will tell you it was one

nightmare followed by another. They did not have their

instructions/requirements in order. What should have taken no more

than 2 weeks took one month and 5 days!!!!!!! That is a LONG time

wondering if your child has CF or not, questioning every poop, cough,

sneeze, etc. Genzyme was completely incompetent and not sympathetic

to our situation!

Let's face it, they are a business and can be shopped just like

shopping different grocery stores. Use another store!

If you still chose to get the free test – MAKE THEM PUT IT IN WRITING

ON THEIR LETTER HEAD.

Not happy with Genzyme,

Christen

mom to 4 wcf and Peyton 5 months no cf

> Hi,

> I was wondering if anyone had been given the option of having

further testing for their CF kid or themselves by Genzyme? I had

requested that our amniotic fluid be sent to Genzyme because they

found both of 's mutations (one common and one less common)

Genzyme wanted 's blood to test as well as the fluid and my

blood, but 's blood test wouldn't be covered by insurance

($300.00 extra is too steep right now for us), so we are just doing

mine and the baby's amniotic fluid. However, Genzyme offered to do

their new test on for free. We go on Thursday to the place

where they did the amnio and they will let her do a " swish and spit "

type of collection of her cells from her mouth. The hospital then

sends it right back to Genzyme and they will do the new test on her.

I don't know why they want to do it, but they are not charging for it

and they say that since the technology has changed in the last few

years that they will get more info, and it will be helpful with the

amnio info.........

> Has anyone heard of this or done it? What can it tell us that is

different than the " Genzyme 70 " test that they used to do?

>

> somewhat confused, but willing to do it if it will help to

determine things for the new baby

>

>

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,

Genzyme tested our daughter using the buccal swap technique when

she was first born. They did the sample in the NICU (she had

meconium ileus). It took about 2 weeks to get the results and they

found the mutations without difficulty. We were pleased with them.

With my pregnancy this time we did CVS testing and the cells all went

to Labcorp because we needed to check for CF and alpha-1 antitrypsin

deficiency, plus the basic chromosomes. There is one guy there who

does all the stuff and we didn't want the sample to be sent separate

places. I don't think you'll have any trouble with Genzyme. I know

the wait is so very hard. That was absolutely the worst part. I

hope for you a happy outcome.

Keeley

Mom to Hadley, 3.5yrs. nocf & noA1AT, Leila, 18m. wcf & A1AT, and

baby boy due early June, nocf & noA1AT

> Christen,

> I am so sorry that you had such a hard time with Genzyme. I only

requested them because one of the mutations that has is not in

the most common 25 and they found it with their first test.

Unfortunately, they already have my blood and the amniotic fluid, so

since they are offering this test for for free, I guess we

will go and have it too. I will ask for confirmation that 's

test is being done for free though! I hope we have a better outcome

than you did. I wish I had known about this before we requested them

for the test, I would have checked into other tests. (they did

forget to tell the genetic counselor that they needed my blood too so

I had to go do that separately,) I let you know what happens.......

>

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What should have taken no more

> than 2 weeks took one month and 5 days!!!!!!!

My son's Genzyme test took twice as long to get the results back

as it did to get the Ambry test results. We live not more than 50

miles away from Genzyme so you would think it wouldn't take any time

at all. They caught one of my son's mutations.

jan

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