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Could use your thought/prayers!

L

ladybug

New member
Hmmmm... now ya'll have ME worried about Ben's results! What's this Ambry business and where are they located? How would you know if that's who was used? All I know is the base sent ours somewhere that was supposed to be really good. But, now I'm second guessing since ya'll have had to fight for the "best" place! Why Ambry? What makes them better?

Thanks,
 
L

LouLou

New member
good luck. Shortly after marriage in '03 we got DH tested...well before we were thinking about making babies. We didn't stress too much about it. He was sure he wasn't a carrier and I thought that sounded like a good point of view to rely on until a test proved us wrong. Luckily it didn't prove us wrong. He is not a carrier. The test was completed through Genzyme.
 
L

LouLou

New member
good luck. Shortly after marriage in '03 we got DH tested...well before we were thinking about making babies. We didn't stress too much about it. He was sure he wasn't a carrier and I thought that sounded like a good point of view to rely on until a test proved us wrong. Luckily it didn't prove us wrong. He is not a carrier. The test was completed through Genzyme.
 
L

LouLou

New member
good luck. Shortly after marriage in '03 we got DH tested...well before we were thinking about making babies. We didn't stress too much about it. He was sure he wasn't a carrier and I thought that sounded like a good point of view to rely on until a test proved us wrong. Luckily it didn't prove us wrong. He is not a carrier. The test was completed through Genzyme.
 
J

julie

New member
Sonia, you'd have to ask the doctor of the name of the lab they sent it to. Here's ambry genetics website, www.ambrygen.com

We had our first test done through Genzyme, but they only tested for 89 mutations and that didn't sit well with me. So Mark's CF doctor wrote a letter for tricare stating WHY we were having the carrier testing done on me and how important it was to have at test that could detect nearly 100% of all known mutations. (i.e. a "faulty" test could result in us having a baby with CF, which means more $$$$$ in the long run to the ins. company). They authorized it in a few weeks, and then to get the test results back took abut 6 weeks.

EDITED TO ADD: Ambry is a sponsor on the Families section, you can go there and ask them questions, bill has Pinned an introduction at the top.
 
J

julie

New member
Sonia, you'd have to ask the doctor of the name of the lab they sent it to. Here's ambry genetics website, www.ambrygen.com

We had our first test done through Genzyme, but they only tested for 89 mutations and that didn't sit well with me. So Mark's CF doctor wrote a letter for tricare stating WHY we were having the carrier testing done on me and how important it was to have at test that could detect nearly 100% of all known mutations. (i.e. a "faulty" test could result in us having a baby with CF, which means more $$$$$ in the long run to the ins. company). They authorized it in a few weeks, and then to get the test results back took abut 6 weeks.

EDITED TO ADD: Ambry is a sponsor on the Families section, you can go there and ask them questions, bill has Pinned an introduction at the top.
 
J

julie

New member
Sonia, you'd have to ask the doctor of the name of the lab they sent it to. Here's ambry genetics website, www.ambrygen.com

We had our first test done through Genzyme, but they only tested for 89 mutations and that didn't sit well with me. So Mark's CF doctor wrote a letter for tricare stating WHY we were having the carrier testing done on me and how important it was to have at test that could detect nearly 100% of all known mutations. (i.e. a "faulty" test could result in us having a baby with CF, which means more $$$$$ in the long run to the ins. company). They authorized it in a few weeks, and then to get the test results back took abut 6 weeks.

EDITED TO ADD: Ambry is a sponsor on the Families section, you can go there and ask them questions, bill has Pinned an introduction at the top.
 
L

ladybug

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>julie</b></i>

Sonia, you'd have to ask the doctor of the name of the lab they sent it to. Here's ambry genetics website, www.ambrygen.com



We had our first test done through Genzyme, but they only tested for 89 mutations and that didn't sit well with me. So Mark's CF doctor wrote a letter for tricare stating WHY we were having the carrier testing done on me and how important it was to have at test that could detect nearly 100% of all known mutations. (i.e. a "faulty" test could result in us having a baby with CF, which means more $$$$$ in the long run to the ins. company). They authorized it in a few weeks, and then to get the test results back took abut 6 weeks.



EDITED TO ADD: Ambry is a sponsor on the Families section, you can go there and ask them questions, bill has Pinned an introduction at the top.</end quote></div>

Thanks, Julie... I did go to the website, but couldn't find a whole lot other than they're "the best".. lol... so, I may contact them if we decide to get another opinion. I looked at the record I have about where I had my genotype done and it was an air force genetics lab at keesler. My gut feeling is that they sent DH bloodwork there as well.. not sure though since I can't find those records.

Anyway, thanks for the info. We'll see what we decide to do. The lab that did mine tests for 90% of mutations and I suppose I got the 99% from the fact that with MY test, 1 in 240 get a negative and are in fact carriers, and doing the math, that would still mean 1 in 240 and then 1 in 4 chance child would have CF... I think the geneticist explained it to us like that... anyway, still pretty rare with a clinic that tests at 90%, but still doesn't make me too happy.

Thanks again...
 
L

ladybug

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>julie</b></i>

Sonia, you'd have to ask the doctor of the name of the lab they sent it to. Here's ambry genetics website, www.ambrygen.com



We had our first test done through Genzyme, but they only tested for 89 mutations and that didn't sit well with me. So Mark's CF doctor wrote a letter for tricare stating WHY we were having the carrier testing done on me and how important it was to have at test that could detect nearly 100% of all known mutations. (i.e. a "faulty" test could result in us having a baby with CF, which means more $$$$$ in the long run to the ins. company). They authorized it in a few weeks, and then to get the test results back took abut 6 weeks.



EDITED TO ADD: Ambry is a sponsor on the Families section, you can go there and ask them questions, bill has Pinned an introduction at the top.</end quote></div>

Thanks, Julie... I did go to the website, but couldn't find a whole lot other than they're "the best".. lol... so, I may contact them if we decide to get another opinion. I looked at the record I have about where I had my genotype done and it was an air force genetics lab at keesler. My gut feeling is that they sent DH bloodwork there as well.. not sure though since I can't find those records.

Anyway, thanks for the info. We'll see what we decide to do. The lab that did mine tests for 90% of mutations and I suppose I got the 99% from the fact that with MY test, 1 in 240 get a negative and are in fact carriers, and doing the math, that would still mean 1 in 240 and then 1 in 4 chance child would have CF... I think the geneticist explained it to us like that... anyway, still pretty rare with a clinic that tests at 90%, but still doesn't make me too happy.

Thanks again...
 
L

ladybug

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>julie</b></i>

Sonia, you'd have to ask the doctor of the name of the lab they sent it to. Here's ambry genetics website, www.ambrygen.com



We had our first test done through Genzyme, but they only tested for 89 mutations and that didn't sit well with me. So Mark's CF doctor wrote a letter for tricare stating WHY we were having the carrier testing done on me and how important it was to have at test that could detect nearly 100% of all known mutations. (i.e. a "faulty" test could result in us having a baby with CF, which means more $$$$$ in the long run to the ins. company). They authorized it in a few weeks, and then to get the test results back took abut 6 weeks.



EDITED TO ADD: Ambry is a sponsor on the Families section, you can go there and ask them questions, bill has Pinned an introduction at the top.</end quote></div>

Thanks, Julie... I did go to the website, but couldn't find a whole lot other than they're "the best".. lol... so, I may contact them if we decide to get another opinion. I looked at the record I have about where I had my genotype done and it was an air force genetics lab at keesler. My gut feeling is that they sent DH bloodwork there as well.. not sure though since I can't find those records.

Anyway, thanks for the info. We'll see what we decide to do. The lab that did mine tests for 90% of mutations and I suppose I got the 99% from the fact that with MY test, 1 in 240 get a negative and are in fact carriers, and doing the math, that would still mean 1 in 240 and then 1 in 4 chance child would have CF... I think the geneticist explained it to us like that... anyway, still pretty rare with a clinic that tests at 90%, but still doesn't make me too happy.

Thanks again...
 
P

point

New member
Jessi - - Wishing negative results for you! My husband had carrier testing last year and it is an emotional time. We had our results within a week and I almost wished we had more time to contemplate our reactions to the results. It took us some time/ discussions to decide to test so we were surprised that we would have results so quickly after the blood draw.

Overall, if you can get more mutations screened easily enough than by all means go for it, but just in case you aren't able to have the tests completed I wanted to point out that it may not change your overall confidence in the result. For example (sorry this is a bit winded), we opted for the smaller no. of screens which gave us 99.6% confidence that my husband was not a carrier. The other test offered to us (I don't think it was Ambry so I am not saying that these numbers directly apply to the Ambry test) gave us an additional 0.1% making us 99.7% confident that he was not a carrier.

Are you able to meet with a genetics counselor to discuss the tests and their relative confidence around the genetic screening? It may help put your mind at ease in regards to going with a larger smaller screening panel. Frequency of the individual mutations (and inclusion of the more frequent mutations within the screening) play a larger role in your assurance of your negative result than the no. of mutations that are screened. A panel can screen for 1000s of mutations but if some are so rare and their frequency is extremely low it doesn't really give you that much more confidence (statistically speaking) of the neg test.

Just something to think about and/or discuss with your dr.'s/ genetic counselor if they are available for you. At the end of the day, no test will be 100% confident on a negative test but your risk is basically non-existent.

Best wishes! I know how grueling it can be to wait for results!
 
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