Welcome Ambry Genetics

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StevenKeiles

New member
The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample.


Regarding the basic panel, that is not the 23 most common mutations. It does contain many of the most common mutations but not all and the reality is that most of the mutations on the panel are rare as well.

Steve
 
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CLEAmom

Guest
Hi Steve,
I posted on 2/14 and was just wondering if you have any thoughts on my girls.
As I explained, no mutations, but both are symptomatic.
I wish our visit to the CF center was soon!!
Thanks again
 
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dmoore

New member
Hi Steve (and anyone reading!),

My son's allergy/asthma doctor recently told us that next time our son (6 years old) is admitted to the hospital we should request to have the sweat test done for CF. This of course now has on red alert. My husband and I have now been doing a ton of research about this disease.

My son's health history consists of asthma and pneumonia since he was about 6 months old. He's been admitted almost once a year since he was 2, with several ER visits in between. It seems like he has a year-round cold. He just seems to get over one and another is around the corner. Everytime it flairs up, he has asthmatic symptoms. This last time, because of mucus plugs, he had reduced saturation of around 83-88 (even after back to back breathing treatments)for about 8 hours, which was a little scary. He also has diarrhea most of the time, which I didn't know to mention to the asthma doctor, because I knew nothing about CF. He takes Advair everyday, and Xopenex and Prednisolone when the asthma flairs up.

From what I've read, it seems like more often than not, that the sweat test in inconclusive and people are still getting the gene test. Since I have a PPO with a deductible, I'm wondering if the sweat test is a waste of time, and should I just go straight to the gene test?

Also, should I go through the allergy/asthma guy for these referrals, or through his pediatrician? We don't have much history with either one, because they are both new to us in the last 9 months.

Thanks for any information you or anyone can offer.

Donna
 
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saveferris2009

New member
I'm not Steve so I hope he will respond.

But I do think that sweat tests are a huge waste of time. I'd go right to a full panel, Ambry amplified test immediately.

Best of luck!
 
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StevenKeiles

New member
Donna,

The sweat test is a key component in trying to make a diagnosis of CF. The genetic tests are also extremely important. However, it is the combination of a lot tests that go into making a diagnosis. I would go ahead with the sweat test since that is a very good place to start.

best of luck,

Steve
 
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hmw

New member
In our family, we have one child where sweat tests have come back 'borderline' and one child where sweat tests came back very, very positive. Even with how frustrating it is having my son in that 'borderline' category, I could never say these tests are a waste of time... in my state, a sweat test costs <b>$160.00</b> and does accurately dx a good proportion of those with cf. No, not all... but many. That's opposed to the over <b>$3,000</b> that the amplified Ambry panel costs. Yes, you may end up needing the Ambry panel- but if the sweat test *is* positive, esp. combined with his symptoms... it might not be necessary right away, esp. if insurance is an issue, etc. (Sweat test results are also available almost immediately, as opposed to several weeks.) I would just want to be sure the test is performed at a lab accredited by the CFF.
 
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saveferris2009

New member
<begin quote><i>Originally posted by: <b>hmw</b></i>

In our family, we have one child where sweat tests have come back 'borderline' and one child where sweat tests came back very, very positive. Even with how frustrating it is having my son in that 'borderline' category, I could never say these tests are a waste of time... in my state, a sweat test costs <b>$160.00</b> and does accurately dx a good proportion of those with cf. No, not all... but many. That's opposed to the over <b>$3,000</b> that the amplified Ambry panel costs. Yes, you may end up needing the Ambry panel- but if the sweat test *is* positive, esp. combined with his symptoms... it might not be necessary right away, esp. if insurance is an issue, etc. (Sweat test results are also available almost immediately, as opposed to several weeks.) I would just want to be sure the test is performed at a lab accredited by the CFF.</end quote>


We have 3 medications in clinical trials that are CF gene specific. The genetic test will have to be done eventually...

So even if you get a very, very high result, you're eventually going to have to get that genetic test.

I just think sweat tests prolong the "what is wrong with my child".... sweat test can give you a "yes, no, or maybe". Full panel genetic test will give you a 99% yes or no.

But I do understand the money thing. But gosh if it were the health of my child I'd do anything to figure out what was going on, at all costs.
 
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hmw

New member
I agree with the doing whatever you need to do when it comes to the health of your child. (Getting to the point we are with my daughter took an awful lot, believe me, and while we knew something was very wrong we never had any idea it would end up being CF. Yet here we are, after sweating a 108 and a 90 and responding very well to enzymes.) So please don't get me wrong there. I just wouldn't forgo the test altogether... esp. since I have the feeling (though I can't say I know this for certain) that insurance likely requires it before moving forward with other cf-related testing.

And it is very frustrating to still be part of the 'maybe so' population with one child even after genetic & sweat tests. Now we need other testing, none of which is '100% definitive' to try to tip the scales one way or the other.

I admit that is an excellent point about the mutation-specific drugs in the works and I never even considered that in my first post.
 
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dmoore

New member
Thanks for your advice. My son had a two-week check up from his last flair-up with his allergy/asthma dr.(the one that brought up the sweat test). I told him my husband and I didn't want to wait until the "next time", that we want to go ahead with the sweat test now. So, the referral is in the works.

How are your boys doing? Now that the one is diagnosed, is treatment helping him?

Donna
 
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dmoore

New member
Hi Steve,
My son's asthma doctor said that the best place to have the sweat test done around here (Orange County) is at CHOC. If he has it done there and he has a borderline result, and I request the gene testing, do you know if that facility automatically uses Ambry or do I have to request it?

Thanks,
Donna
 
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mschelly2000

New member
Hi Steve,
I had a question for you. Any help would be greatly appreciated. My son had the Genzyme sequencing done and it revealed a 7T variant and one mutation (1540A>G M470V), and it also claimed that it can't rule out another mutation in the deletions and duplications. Our doctor has told me that my son doesn't have CF, but I am not confident with his diagnosis and I think there is a possibility of more testing needed. He has chronic issues and the majority of it is lung related. He has cultured 3 different bacteria in a year and is only 3. He now also has a possible kidney issue. There are many other symptoms that are suspicious as well but I will spare these here. What are you interpretations of the results? I do have a copy of the results available. I requested to see a geneticist but was blown off. Thanks again.
 
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bkhphoto

New member
Hello, all, so glad to find this board! I am a mother of a 9-year-old son who has been relatively healthy till now... he is not presenting in a normal way whatsoever for about any disease they can think of. I'll spare you the details, but suffice it to say that he had 2 positive sweat tests (62 and 66). He also shows low fecal elastace. So, we have been waiting a month for the genetics blood work results. They came today and now we have even more questions. The docs are all consulting each other and scratching their heads. I have very basic understanding of all this, but here goes. He has one DeltaF508 mutation, and one polytransmutation 7T/9T. However, the R117 is missing from the picture, genetically speaking. So, they are now wondering whether this qualifies or disqualifies him from the actual CF diagnosis. In the meantime, although his health is not at a "critical" point, he is in pain daily and having a hard time just living his daily life. Can anyone shed any light on this issue for us, or give any advice on our next step? Thanks so much, Shelly, Austin's Mom
 
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bak368

New member
My 8 year old daughter had had a high neg sweat test. Her genetic sequencing so far has show Delta F508 gene and T5. My husbad ad myself have given blood for testing also. i was told at birth she was a carrier of CF!!! Does these results mean she is now diagnosed As having the disease? We have not yet gotten back the results of our testing. We3 were told 4 to 6 weeks. I am mom and have a cousin who is my fathers twins daughter with CF and his unce. But my husbands siter tested positive for the gene carrier.
Any answere to this will help me so much.
sincerely
Worried Mom BAK
 
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reagansmom

New member
Steve,

I've been reading about this newly found gene that alters the severity of CF. So my question is, does Ambry test for this gene? And how much would such a test cost?

Thanks!

Kari
 
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armymom74

New member
Hi Steve
My 5 month old son recently had a full pannel test done by you guys which confirmed he has the DF508 (from mom), 5T mutation (from dad)with 11 T repeats. The really confusing part is that they also found a new variant in the CF
gene in Caleb, one which has never before been reported. could be completely harmless.

Originally we were told that if the DF508 was from me and the 5T from dad on the oposite side that it would give us a positive diagnosis. Now the Dr is back tracking and stating that becasue my son has no symptoms, normal pacreatic function and his sweat tests were in the high normal range that they cannot diagnosis him.

Can a diagnosis be made purely on the genetics even if the child is showing no symptoms?.

confused and frustrated.
 
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akahl

New member
Hi Steve,
We are currently waiting on my husband's Ambry results in order to proceed with a frozen IVF cycle. I was diagnosed with CF after our twins were born prematurely and our son tested as a carrier. I have DF508 and R117H and they think (my doctors) that my husband is a carrier of a less common mutation and that our son did actually have the disease (our son passed away at 6 months old after suffering brain damage from an episode of cardiac arrest). Anyway, I can't remember the exact date we sent his blood work in, but I was wondering about long it takes to complete the full panel and how we will receive the results.

Thank you for taking your time to answer all of our questions...this site is such a wonderful resource.
Angie Kahl
 
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StevenKeiles

New member
Donna,

We do receive samples from CHOC routinely, so it should come to us if it is ordered by the doctor. You can talk to them at the clinic about this.

good luck,

Steve
 
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