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StevenKeiles

New member
Husband needs to be tested

Nealag,

We have never seen that mutation and I cannot find anything about it. It obviously is very rare, but from the type of mutation I would expect it to be a typical CF causing mutation.

Steve
 
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KP

New member
Husband needs to be tested

Steve

My son was recently diagnosed with mutations Delta F508 and IVS7+1G>A with Intron 8 polyT alleles 7T/9T. It also states that the DNA change for the Delta F508 is exon 10, 1653_1655delCTT. I am well aware of the F508 but was wondering if you could tell me more about the IVS7+1G>A mutation and its severity/effects.

Thanks,
KP
 
S

StevenKeiles

New member
Husband needs to be tested

KP,

This mutation is also known as 1248+1G>A, this is not a very common mutation but we have seen it several times. It appears to be a typical CF causing mutation.

Steve
 
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rhubarb

New member
hello steve,

i was directed here from the "newly diagnosed" forum. i am 15 weeks pregnant with identical twins and have just learned that both my husband and i are CF carriers. we are awaiting an amnio and genetic counseling. my husband's mutation is the common DF508, but mine is V520f. i can't seem to find much info on my mutation. do you know what class it falls into or anything else about it that might be useful?

thanks so much,
jackie
 
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StevenKeiles

New member
Jackie,

The V520F is not a common mutation but it is associated with a a fairly typical CF disease. I would expect a person with this mutation and deltaF508 to have a classic CF presentation. However, there is always variability so not everyone with the same mutations will have the same disease. But this particular mutation would not be considered a very mild mutation.

Best of luck with your results.

Steve
 
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combo76

New member
Good Morning Steve,

I am hoping you can answer a question for me. I am very confused. My daughters dr. gave me results from her genetic testing for CF. I was informed by the dr.'s nurse, that CF can be ruled out - but they found some polymorphisms. When I asked what that meant, I was told, he wasn't sure, and he doesn't understand. Can you maybe shed some light for me? I really appreciate it.
Thank you.
 
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melleemac

Guest
Have you any information on the gene L7254X. When my twins were diagnosed it was a mutant and didnt have a name, the only thing I have been told is that it is really rare in Canada. Hubby has the Delta F508 gene. The twins cf is pretty severe in both the lungs and digestive system. Thanks for any info you may have.
 
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holmfamily1992

New member
Hey Steve,

I was told to forward this question to you. We have one son that has tested positive for CF and now we are trying to get our other 7 children tested. Since his diagnosis we have found out through other family members that Delta F508 is present on my husbands side. (this is a different mutation then what they found in my son) Our insurance company is stating that we need to do sweat test first. Wouldnt it be more benificial for genetic testing first? And is there anything Ambry can do to help fight this process? Whether any of the other children have CF or not we still need to find out if they are carriers.

Thanks, Tina
 
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StevenKeiles

New member
combo76,

Polymorphism is another term for a common variant that is carried by a significant percentage of the population. they are not considered to be disease causing.

Steve
 
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StevenKeiles

New member
Mellemac

There are too may numbers in that mutation if it starts with a 7. Check the mutation name again. However, I can tell you that any mutation that ends in an X, is generally considered a severe mutation.

Steve
 
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StevenKeiles

New member
Tina,

I would agree with you that genetic testing often makes more sense then starting with a sweat test when you know the mutations in a family. However, every insurance plan is different and we are not in a position to tell the insurance companies what to do. We could certainly answer questions from someone in an insurance company regarding testing one of their clients and we have done this in the past. But we only respond to their questions.

Another option would be for you and your doctor to write a letter of appeal and that is what I would recommend for your situation. Don't know if it will work but it is probably worth a try.

Steve
 
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Munkeesmama

New member
Hello, I ordered the test kit from Ambry for my 2 year old. I thought it would be a blood test. I received it yesterday an lookd in it and there are 2 containers (one blue one clear that look like one has flui in it). And a bunch of cotton swabs with instructions to swipe the kits. It looks like a DNA test. I was expecting some sort of blood test kit. Is this correct, or should I call the company back and request a different kit.

I should also add: my daughter has ALOT of CF symptoms, gets sick alot, ftt, has a feeding tube, a few g.i. issues etc. Her sweat test numbers were 19 and 22, she had the test which tests for 97 genes through genzyme i believe. Would you recommend pursuing ambry's testing? Or rather, have you see these normal sweat test numbers, along with negative results fo the 97 genes and end up finding something through your testing? Thanks in advance!
 
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cathycat

Guest
Hello, my 13 y/o son was diagnosed in November 2007. He has DeltaF508 and G85E. I have been unable to find any information on G85E. Any information would be helpful, such and how common it is and severity of symptoms.
Thank you.

Cathy---mom to Brian (13 w/CF) and Patrick (19 months carrier of DF508)
 
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JazzysMom

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

Hello, I ordered the test kit from Ambry for my 2 year old. I thought it would be a blood test. I received it yesterday an lookd in it and there are 2 containers (one blue one clear that look like one has flui in it). And a bunch of cotton swabs with instructions to swipe the kits. It looks like a DNA test. I was expecting some sort of blood test kit. Is this correct, or should I call the company back and request a different kit.



I should also add: my daughter has ALOT of CF symptoms, gets sick alot, ftt, has a feeding tube, a few g.i. issues etc. Her sweat test numbers were 19 and 22, she had the test which tests for 97 genes through genzyme i believe. Would you recommend pursuing ambry's testing? Or rather, have you see these normal sweat test numbers, along with negative results fo the 97 genes and end up finding something through your testing? Thanks in advance!</end quote>


DNA/Testing can be done with a swab. Give the age of your child they probably sent it instead of the blood draw kit to make it easier on your child. The fluid in the one vial is a chemical used in storing/testing purposes. Many test vials have this so its not unusual.

Steve is probably away for the holiday weekend, but I am sure my answer is accurate tho I can understand if you wish to wait & here from the "expert".


BTW as to your daughter....she definitely sounds like she has symptoms that justify genetic testing. We have a few members on here whose children had low/borderline sweat tests results, but when the genetic testing was domne it showed CF. I suggest having the FUll Ambry Amplified Panel done to be sure!
 
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Munkeesmama

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

Hello, my 13 y/o son was diagnosed in November 2007. He has DeltaF508 and G85E. I have been unable to find any information on G85E. Any information would be helpful, such and how common it is and severity of symptoms.

Thank you.



Cathy---mom to Brian (13 w/CF) and Patrick (19 months carrier of DF508)</end quote>


I found this on that mutation:
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=55
">http://www.genet.sickkids.on.c...ilPage.external?sp=55
</a>

I found a few other things which said It's linked to mild disease. I'm sure Steve will have more information for you though.
 
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StevenKeiles

New member
Melissa you are correct. Munkeesmama make sure you read the instructions, you need to leave the sponge tips in the mouth so they absorb all the saliva, they need to be saturated and not just brush the inside of the mouth.

I would recommend testing since there is some question about the cause of the symptoms. Either way the results will help clear up the situation.

Contact me directly if you have any questions.

Steve
 
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StevenKeiles

New member
Cathy,

G85E is not one of the most common mutations, but it is seen periodically. It appears to be a little variable in that many of these patients may have been diagnosed a little later than usual. However, there are some that do present with a more typical picture. It is probably not the most severe mutation but definitely can cause typical disease in many people.

STeve
 
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cathycat

Guest
Thank you for the information. Of course I'm hoping that he has a mild form of the disease
 
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