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StevenKeiles

New member
Kari,

It is the 394delTT and both this one and R1066C would be considered typical disease causing mutations. Neither would be considered very common but I have seen a number of patients with these mutations but this combination woul be extremely rare. However, that being said, it really would fall into the typical CF category of which most patients will fall. I hope that helps.

Best of luck,

Steve
 
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saveferris2009

New member
Hey Steven,

Wondering how much it costs for Ambry to test for just 1 gene. I'm trying to get family members to make sure their children don't carry the CF gene I have and it would be helpful in my pitch if I could tell them how much it might cost out of pocket (if insurance doesn't cover).

Thanks!
 
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StevenKeiles

New member
Saveferris, (is that a tribute to the movie or the band?)

The cost for one mutation is $170 and for 2 mutations would be $300.

Steve
 
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reagansmom

New member
Steve,

Thankyou for your response to my previous question. I have another one I'm hoping you can answer. So, in the "pipeline" there are medications that are designed to treat specific mutations, Vertex Pharm. has VX-770 for G551D and VX-809 for DF508, and PTC Therapeutics has PTC 124 for nonsense mutations. I'm wondering what this means for Reagan having the two uncommon mutations (394delTT and R1066C)? Is it possible that one of these could work for her?

Thanks so much!

Kari
 
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StevenKeiles

New member
AJ,

we can accept samples from around the world. You just need to find a doctor or laboratory that is willing to order the test and ship it here. We would need a doctor to report the results back to. Whoever you find can get in touch with us if they have any questions. Most questions can be answered on our website in terms of how to send a sample.

Steve
 
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HopeyC1972

New member
Hi Steve-

Took me about 2 days to get through most of this thread, and have to say it was fascinating.

My question is about my 23-month-old son whose Ambry genetic testing recently came back finding he has the common DeltaF508 mutation, as well as the (TG)12-5T variant. (He has also had 2 previous "borderline" sweat tests, with numbers in the 40s and 50s, which lead to the pulmonologist ordering the Ambry test.) The pulm he had been seeing sent us to an accredited CF center we visited 2 days ago, and the doctor there classified him as Atypical CF. He mainly presents with asthma symptoms, but also does not grow, yet is pancreatic sufficient. The CF doctor went over the Ambry results, which said the combination of this mutation and variant would usually lead to CF, but then he said that is assuming they are on different chromosomes. I think I understand what he was saying, but is it just assumed they are on different chromosomes when Ambry sends the results, or is something else needed to determine if they are on the same chromosome? The doctor really didn't say and was most interested in the standard pre-natal testing I had done with my first pregnancy eight years ago, which stated I wasn't a carrier. (And trying to dig up those records is not going to be easy, as I switched doctors due to re-locating and insurance changes three different times during that pregnancy.)And if they are on the same chromosome, what then does that mean for his diagnosis? At this point, he has been through 15 months of testing to determine why he doesn't grow very well, and also why he gets these never-ending colds and coughs and I just want an answer one way or another as to what is wrong with my child.
 
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hmw

New member
Hi Steve,

I just got word re. my dd's testing; she came back with one DeltaF508 mutation but they couldn't identify the other one. Her dr. said that this would, in most cases, indicate that someone was just a carrier, but in her case with sweat test results of 90 and 108 and pancreatic insufficiency (and since starting enzymes a good response resulting in wt gain) there is no doubt she has CF. I know this puts her in that '1%' that has a mutation that just is unknown but in terms of numbers- how often is that really seen nowadays given the sensitivity of the Amplified test?

This really complicates things for my son with a borderline sweat test of 48; if he comes back with the DeltaF508 like his sister it will be difficult to tell if he's just a carrier or if he actually has CF (he has what could be vague symptoms but could just be allergies, etc.)

Given my dd's results what advice do you now have in regards to family members getting screened for carrier status?
 
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Munkeesmama

New member
Hi Steve,

first, I want to say thanks for being here and offering support and for your wealth of knowledge. With that said, my daughter had a basic CF test done through another lab. It tested for 96 genes. that came back negative. Her one and only sweat test results were 22, and 19, so technically negative, but i've heard of people with lower results and being diagnosed. anyways, she has a new set of doctors and they ordered the CF amplified test through Ambry, I believe the test was started about a week ago.Will this also be testing for gene mutations? If nothing comes back, then there's really no other cf testing to run, correct? Also, what are the percentages of people who have negative basic, 96 gene testing, with lower seat test results, who do come back with cf genes? Thanks in advance.
 
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thiot2000

New member
Hi Steve,

Thanks for your response a few weeks ago regarding my question about donor eggs and additional testing. My husband had blood drawn last Monday and we are (perhaps not so patiently) waiting for the results.

I was wondering, will we be notified if the 508 First test is negative? I know it takes 3-5 days, and was hoping for an update. Is that something that we could find out by calling Ambry?

I could email you privately with specific information, if that would help.

Thanks in advance!
Kim
 
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hmw

New member
Kim, my boys are being tested right now too and I am wondering that part too! They are getting the Amplified screen done but I would love to know right off if the F508 mutation is present and I know that part is determined much sooner than the rest of the screening. They will keep on going, looking for a 2nd mutation, whether or not F508 is present, but if it's NOT there, it would seem to rule out my boys actually having CF (since Emily has the F508 and all 3 of my kids have the same father.) ~~Steve, please correct me if my line of reasoning there is incorrect...

Emily's report, including deletions, was ready 20 days from the day labs were drawn here on the east coast; the boys had theirs done 7 days ago. **I hate the Hurry Up and Wait Game!*

My thoughts are with everyone else here going through the same waiting, watching and wondering...
 
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thiot2000

New member
Hi Harriett!

Thanks for letting me know how long your daughter's test took. when she was diagnosed, did you and your husband test or are you just testing your children?

I hope you get results soon, and that they bring good news!

If it is not too personal, do you have any known relatives with CF or was this something that was completely unexpected? I'm just beginning to realize how common it is to be a carrier!

Kim
 
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hmw

New member
Kim, my husband does have a nephew with CF... but at the same time, this was completely unexpected to us. I had no family hx of CF so I'd never had screening recommended to me (i.e., by my obgyn) and in retrospect this makes me feel so silly now but I had no idea how common it was to be a carrier either!

Even when Emily was scheduled for her sweat test (the endo ordered it)- we'd been investigating growth failure, and the only thing I knew about CF was lung disease so it had never occurred to me to think of this on my own. It was a total shock to me to get her dx.

At this time only my children have been tested.
 
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CFHockeyMom

New member
Hi Steve,

I've got two questions for you...

First one is easy; how much is it for the basic panel? My mom is interested in finding out if she is the carrier for one of Sean's genes (711+1G>T). We already know that my husband's mom is the DF508 carrier.

Second question may be a bit more difficult... I've seen some studies that suggest CF carriers may be more prone to certain kinds of cancer (specifically pancreatic). Do you know if it's certain genes that are more prone to this or is it any CF gene? Both my husband's maternal grandfather and my maternal grandmother battled cancer, pancreatic and colon respectively. I'm trying to get our primary to refer us to a genetic counselor so any info would be appreciated.

Thanks.
 
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thiot2000

New member
Harriett, I don't think you were silly or negligent or anything else by not being tested in advance. If I had not been going to a reproductive specialist, testing would not have even entered my mind either. And, to be honest, even when it was presented to us when we were doing IVF, we initially opted not to do any testing because we didn't think we had anything in our family. I thought it was just something else to run up the bill!!!

How is your Emily doing? You said that you thought she was having growth problems--was that her primary "symptom"?

We heard today from the doctor that my husband's Delta F508 test was negative (they received the report on Friday) so we are now waiting for more results.

This waiting is really hard, isn't it? It is two weeks today since the blood draw...so I am hopeful that maybe within the next week or so we'll have more information!

Kim
 
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hmw

New member
Yes, our primary concern with Emily was growth failure- at age 3 she was on the upper percentiles for weight & height and then she stopped gaining weight- by 7.5 she had dropped off to the 5-10% despite always eating well. Over the last yr it was getting really bad- she was tired all the time, pale, just never looked 'well' and it was so obvious that something serious was going on. It was the endocrinologist we'd been referred to that ordered the sweat test (results= 90 & 108.) Since starting enzymes she's been a changed child!! She has so much more energy, has gotten her color back, has gained about 2 pounds (a HUGE accomplishment!), she is eating even better- just seems so much healthier. I hope that she continues to do well like this. In hindsight we know that she's had worsening respiratory infections over the yrs but nothing like many cf kids have. We will have to see how things go now that we are doing the vest and meds.

<begin quote>I think Steve went on vacation and forgot to tell us! </end quote>
I think so... I hope all is well with him and his family. Well, in the meantime, a few of us have whiled away more of our waiting time... (hear that Jeopardy music in the background??) It's two weeks tomorrow for my boys... I am really feeling for my 11yr old; he is very stressed out about this. <img src="i/expressions/face-icon-small-sad.gif" border="0">
 
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