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rvm1212

New member
Genetics testing

Hi Steven

My boyfriend has recently been diagnosed with cf at 35. We would like to have a child through invitro fertilization. I have asked for the genetic test for cf to see if I am a carrier and it came back negative for 160 mutations. They said that covers 95% of mutation of my area. I would like to know if you think it´s safe to have a children with that screening or if I should perform the amplify ambry test. If so how much does it cost? I ´m from spain and here we have socialize medicine, that will not cover that test. I would like to know if it´s possible to perform it anywhere in spain or if it would be possible to send the blood to the US.
Thank you for your help.
 
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StevenKeiles

New member
Genetics testing

RVM,

In my opinion, any mutation panel is never going to be as good as the full sequence. It does depend on your ethnic background as to how helpful the panel will be for you. We receive samples from around the world so that is not a problem.

Send and email to my work email with your personal information and I can help you more.

Steve
 
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LaurenRogers

New member
Genetics testing

Hi Steve, I'm hoping you can help me. I do not have CF however planning my marriage I decided to get myself and my husband tested as my brother passed away last year from CF. As I had suspected, I tested positive to f508. They only tested for the 12 most common and my husband tested neg to all. They told me chances of having a child with CF is 1 in 484. I've since met families who had the same circumstance and have had children with CF. The genetics counselor I saw here told us we were ok to have children and there's no way to test my husband more or that cf would show on a CVS. Is this true? I cannot take the risk, I need better odds than that. Can you help me?
 
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StevenKeiles

New member
Genetics testing

Lauren,

Obviously there are many more mutations that can also be carried by your husband. There may not be any more testing that can be done on your husband in Austrailia, but if you wanted to have a sample sent to us we can do our most comprehensive test which would further reduce your risks.

If you husband were negative on our CF Amplified test, instead of a risk of 1 in 484 to have CF, your new chances would be 1 in 9,604.

Steve
 
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sdelorenzo

Guest
Genetics testing

I am new to this site and am looking for some info regarding my sons diagnosis. He is six weeks old and has two mutations for CF but I don't really understand how the two work together. He has one heterozygous Delta F508 mutation which I believe is a common one. The other mutation is (TG)11-5T variant. Can anyone help explain to me what I am dealing with? From what I have been reading, he may not have the full symptoms of CF. He may be infertile due to the CBAVD, or he may have little or no symptoms of CF and simply be a carrier. We are still waiting to confirm the blood tests so in the meantime, any help in understanding these two mutations would greatly be appreciated.

Thanks,
Jessica

Mother to Cody 2 1/2 years, no known CF
Mother to Cage, 6 weeks, diagnosed with two mutations
 
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Wendy

Guest
Genetics testing

Steve,
Any advice you can give me would be greatly appreciated.

I have Cf and my husband was carrier tested (I thought by genzyme, the 89 mutation panel) back in 2002 before my son was born. We were told his results were negative. I now have a 7 month old daughter (and 5 year old son) and have been trying to get the full amplified panel run on them for my peace of mind. This has been an ongoing battle with my cf clinic for over 3 months. They say that I only need to test them for my mutations, which are R560T and 621+1G-T. The nurse\clinic coordinater, and now the doctor, are telling me that insurance probably won't cover it, and it is not neccessary to spend that much money, that I should just sweat test them and run the panel for my mutations. During the course of these "discussions", my daughter has come down with a lingering cold that worries me.

Out of frustration, I have agreed for now. Per their "suggestion", my daughter was sweat tested today and blood drawn for the panel. Based on her results, they will tell us how to proceed (in their opinon) with my son's testing. They do not use Ambry, but ARUP laboratories out of Utah. I asked for a copy of the panel being run along with results from the screenings of myself and my husband. After looking over the papers, I am even more concerned.

My husband's test was actually ordered by another doctor and it turns out that it was conducted by Quest and only included 25 mutations. His results read:

"Negative for the cf mutations tested; positive for the 5T allele."
"We note that the tested individual is heterozygous for the 5T polymorphism in intron 8 of the cf gene."

I have only recently started reading about the different mutations and am still confused about weather or not the 5T is of any importance or relavence to diagnosing cf if there is another mutation found.

So my questions are:
1. Should my daughter's test have something specific in it for the 5T, or is this not an issue?
2.If she has one of my mutations (which she will) and the 5T, does she have cf (a-typical cf)?
3. Do I need the doctor's request, i.e. prescription, to get the amplified test or can I ask for this myself?
4. Knowing that my husband has a family history of cf (forgot to mention, his dad's cousin had a daughter with cf), is there any other specific advice you could give for testing?

I know you are busy, but I'd appreciate any input you could give to help me get the peace of mind, although I know nothing is 100%, that I am looking for.

Thanks,
 
S

StevenKeiles

New member
Genetics testing

Wendy and Jessica,

Yes the 5T is important and can cause an atypical or mild form of CF just like you describe Jessica. The TG repeat is also important in that when you have 10 or 11 repeats, the 5T is milder. If you have 12 or 13 repeats then it can cause more symptoms.

Wendy,

Since your husband also has a family history, it could be more helpful to do a more comprehensive test on your daugther. Yes she will have one of your mutations and a 50% chance to have the 5T but if your husband were to carry another mutation it would not be found on the panel or if you just look for your mutations.

Insurance usually covers the cost of testing, which does need to be ordered by a physician. We can check to see if your insurance will cover the testing if you would like. Why don't you contact me directly, my numbers are below.

best of luck,

Steve
 
M

mlejcbs

New member
Hi Steve,

My daughter had a 10 on her sweat test. Her GI says that it is impossible for her to have CF with a 10 on her sweat test. She also had a normal fecal elastace test and fecal fat test. However - she has almost constant mucus stools since birth. I do not think he will order the Ambry test since he basically thinks I'm nuts. SO - if we have to, I want to get the test done ourselves but I would like to know first if I really AM crazy to think she could still have this. My husband is in the military so we don't exactly have a lot of extra money but I will do whatever I need to do to help her.

Thank you

Emily
 
S

StevenKeiles

New member
Emily,

I know we have already spoken. Let me know what happens after your follow up discussions with your doctor.

Best of luck,

Steve
 
S

shortie30

New member
Hi Steven,
My name is Marie. My husband as cf with two mutations ( r553x and unidentified). I was tested just after we were married. I was positive with f508. We have wanted to start our family but finanicail not able to pay for all of the tests and procedures ( ivf and pgd) that are needed. Can you send some help my way with idea's on how to handle this? I am hoping to find some one to help financially ( committies or something). Any help or guidence that you can give would be greatly appriciated.
 
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StevenKeiles

New member
Marie,

Unfortunately, I am not aware of anything that can be of help to you, but maybe some of the other people on here may be able to help you.

Good luck,

Steve
 
N

NoExcuses

New member
Hey Steve,


Quick question. I told my cousin to get gene tested for that side of the family's gene: Delta i507?

He forgot to ask specifically for this gene and instead got some generic blood test.

Is Delta i507 common enough that it would be included in a basic CF test?

I don't know which company the test came from. Thanks for your help!
 
I

Imogene

Administrator
Steve:
I wonder if there are people who test with more than 2 mutations? Do you stop testing when you find two mutations?
Thanks, Jeanne
 
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StevenKeiles

New member
Jeanne,

There are some who have more than 2 mutations, it is possible to have 2 or even 3 mutations all located on the same chromosome. We do the full analysis on every patient, so we are able to detect any number of mutations in one person.

Steve
 
K

katiemom

New member
Steve, I have some questions about the mutations my daughter has, she is one of those you mentioned in another post that has more than 2 mutations. She recently had the Ambry testing and tested positve for 5'UTR-680T>G, (TG)11-5T and (TG)11-7T. We have an appointment tomorrow with our care center for our first visit but I wanted some extra info on these mutations. I have read your posts that the 5T mutation with 11 repeats yields a milder form but what about the 7T with 11 repeats. What does that one mean when it is seen along with the other two? Just wondering what you could tell me about these mutations. Thanks


I accidentally posted this in a new topic window. SORRY<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
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StevenKeiles

New member
Katiemom,

The 7T with 11 TG is normal, not a mutation. Most people have 7 or 9 T's and those are both considered normal. Only the 5T is significant.

Steve
 
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blondelawyer

New member
My husband has CF (was diagnosised as a baby). In 1997 he had a Genzyme genetic test done and they found one deltaf508 mutation, but his other mutation came up as "unknown." I know that many othter mutations have been found since 1997. Do you know if insurance would cover to have the genetic test redone to see if the second mutation can be identified?

Thanks!

Lisa
 
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LauraWoje

New member
I would like to know if there is more information/statistics on the clinical outcomes of this combination (A455E/DF508). Also what are modifier genes? I am told that has a great effect on the clinical outcome.
 
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StevenKeiles

New member
Lisa,

Yes our testing is usually covered by insurance and we can also do a preverification for you if you would like. Please contact our office and provide your insurance information and we can check for you.


Laura,

Both the A455E and deltaF508 are classic CF causing mutations and the combination most likely would result in a typical or classic presentation.

Best of luck to both of you.

Steve
 
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