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StevenKeiles

New member
Steven,

We know that deltaF508 is linked to 9T, so that would mean the 7T is with the R117H. I am not aware of evidence that shows the 7T is more severe than the 9T. Generally the 5T is the one that is more severe and the other two are considered normal variants.

CF is progressive, so in general it will get worse over time. It is different for all people and mild can also vary between individuals. It is not unusual for symptoms to become more significant after repeated infections as patients advance through their 40's, 50's and beyond.

I hope that helps.

good luck,

Steve
 
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StevenKeiles

New member
Sandy,

Yes your primary care can order the test as well. Just make sure you sign a consent form to give your permission to use the sample that was previously submitted.

Steve
 
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SandyCheeks

New member
I think we have completed all of the paperwork and my primary physician was going to fax the information this afternoon. Could you please let me know, or who I can contact to be sure it was done correctly.

Thanks,
Sandy
 
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daisymae

New member
Hi Steve,

As you know, my daughter's sample just arrived at Ambry yesterday. From reading Sandy's post about deletion/duplication tests, can you tell me if that will be looked for with my daughter's and if not, is it something that should be requested by the doctor now, or wait until after the results from the 1500 mutations?

Thanks!
Julie
 
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daisymae

New member
Hi Steve,

Just one more question and then I'll wait patiently until her results arrive As they analyze and look for the mutations, if 2 mutations are found will they just stop looking and then call my daughter's doctor with the results, which would mean the results would be available sooner than 3-4 weeks? Or does it not matter if the test results are negative or positive, it still takes 3-4 weeks?

Julie
 
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StevenKeiles

New member
Julie,

It can go either way, sometimes the results come back sooner whether they are positive or negative and sometimes they take longer, but the average is around 3 1/2 weeks if we have to do deletion testing.

Steve
 
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valigirl21

Guest
My son was tested by Ambry full panel and no mutations were found. Is deletion and duplication another way to dx cf? Is it something I should ask about? I don't know if the CF amplified was done, I just know it was called a full panel, and done by Ambry.
 
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abbysmom

New member
Hi Steve,

My husband, 32 yrs old, was recently diagnosed with CF as we were attempting IVF (DF508 and 5T/12TG variant). We were successful, as our daughter was born July 28. I had been tested years before, and I did not appear to be a carrier, but now we are wondering if we should have tested more thorougly with the less common mutations.

I was under the impression that because my husband has CF, that our daughter would definetly be a carrier. Does this mean she would be carrying one of his two mutations, or might she have a whole different mutation? Also, would newborn genetic screening show her being a carrier?

I know this is slightly off topic of the actual Ambry testing, but we are planning on having our daughter Ambry Amplified tested, with looking specifically for my husband's mutations. Is that possible, and do we even need to?

thanks,
Abbysmom
 
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StevenKeiles

New member
Valerie,
If the testing was done several years ago then deletions and duplications were not likely to be done. It is something the doctors can order now.

Steve
 
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StevenKeiles

New member
Abbysmom,

yes she would have to carry one of his mutations. It is also possible for her to carry something that she inherited from you. Therefore it would make more sense for you to be tested with the Ambry Amplified test and if nothing else is found then she doesn't need to be tested.

That would be my recommendation.

Steve
 
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valigirl21

Guest
Steve,

Actually it was done about a year ago. I'm sorry I can't remember when exactly, around May I think.
 
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mom23

New member
My son was tested in January 2007 with the CF Amplified and was negative. There is still some speculation by Dr's that he has some type of atypical cf and I was wondering if there are more mutations found now and if it would be beneficial to do the testing again.
 
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StevenKeiles

New member
Mom23,

The testing performed in 2007 is the same as today, so it would not be necessary to repeat it. Since we analyze the full gene sequence, it would detect all of the mutations. Remember there is no testing that is 100% but the CF Amplified is 99%.

Steve
 
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laurenwinn

New member
Steven (Ambry)

Hi
My son passed his sweat test with flying colors (got a 7), so we were sent to a gastro specialist, who thinks genetic testing is rediculous, but that if I really feel the need to go that route then I need to see the CF clinic at the hospital (Children's Mercy in Kansas City). If I am seen at that clinic I am just wondering if the full Ambry test is something I will need to push for or if it is something all CF doctors recommend and is well known? I hate going to the doctor and looking like the crazy mom pushing for tests.
 
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StevenKeiles

New member
Steven (Ambry)

Lauren,

You would probably have to ask for it, we do receive samples from that hospital but usually for other conditions besides CF. They can send to us but I am not sure a CF test will necessarily come here. In addition, I do think it is highly unlikely we will find 2 CF mutations given a sweat test of 7.

Steve
 
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