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M

Mommafirst

Guest
HI Steve -- I have a question for a friend, if you don't mind.

She was tested to be a carrier in 2004. Her husband was then tested for all known mutations at the time, and they didn't find any. Now she has an 8 month old son who is failure to thrive, and she is wondering if her husband should be checked again for any mutations that have been found since her husband's test.

How many mutations have been added since September of 2004? Would it make sense to have her husband's rechecked for these additional mutations? Her pediatrician isn't feeling concerned about the baby's weight gain issues, but my friend is. Knowing she is a carrier and knowing that there was a small chance her husband could carry a rare unknown mutation is eating at her. WDYT?

Thanks for your insight!!!

Heather
 
T

Terry

Guest
Hello,
My step-daughter is 9 years old (almost). She is double delta F508. She was diagnosed with CF when she was three years old. Before that she was taken to the hospital several times for "Asthma" attacks. At the time her diagnosis was made, her father was told she probably wouldn't make it past nine years old. I was told by other people that being double delta F508 means you have a severe case of CF. For the past year she has been pretty healthy and her lungs have been pretty clear. This week she was hospitalized for DIOS. Her first episode of this. Is their a connection that makes F508/F508 worse than another genotype? Should she be treated more aggressively than someone of another genotype?

Thanks!
Terry
 
D

dyza

New member
Hi Steve, could you give me any info on these 2 mutations, ( someone from the CFtrust in UK) 3528delc and Vo1201mc, she was told that one of them is a very newly discovered mutation. What classes to tthey belong to.
thanks,

Craig
 
S

StevenKeiles

New member
Heather,

Was her husband tested with us, or did he have a mutation panel test in 2004? If tested with us, I would have her contact me directly. If he was tested with a panel test at some lab only looking at some set number of chromosomes, either he or the baby should have a full sequence analysis test if there is any concern about CF. The preference would be to test the baby.

Steve
 
S

StevenKeiles

New member
Terry,

There are a lot of variables that affect course of the disease in addition to genotype. Not everyone with the same mutations will have the same disease, In addition there are many combinations that can be just as severe is F508/F508. Each child has to be treated as an individual based on their presentation. I hope that helps.

Steve
 
S

StevenKeiles

New member
Craig,

3528delC is a frameshift mutation that I would expect to be a typical CF causing mutation. I have never seen this mutation. The other one I am assuming must be V201M, if not then it needs to be claried. I am not sure what class this would be, but it is seen in moderate CF patients, so it may not be a severe mutation.

Steve
 
C

Cherylwithone

Guest
Steve, Iam new to this site. My daughter was found to have CF in 2006. This was after she was in and out of the hospital. They classified her as failure to thrive and she has had major GI issues. Her bone growth is langing behind her age. The bone growth is 13.5 and she is now 15. Her growth plates are still open. SHe takes a drug to treat her thyroid and many other drugs related to the CF and GI issues. She has been in the hospital 3 times this year. PICC lines etc you know the drill. When she was tested they only found one mutation. S1235R. At the time I was told not to worry that it is all GI and not to worry about her lungs. Guess what her lungs are taking the hits. SO when they they take a hit so does the GI. Right now her GI motility is gone. She has an ace to clean her colon. A MI-KEY for feeds and a back brace. I do not think she was tested with your company. I would really like to know if there is another mutation hiding or is it a double. Also, can you tell me anything about the one mutation she does have. I know of one other little girl with this mutation. Hers is all lungs and no GI issues. Any information would be great. We are going back to the dr's in another week. We go all the time. She is seen at CHBoston. Is followed by 8 doctors. It seems when we kick started her to go into puberty things went down hill. She is in high school and still looks like she belongs in the 6th grade. Sorry this is so long. I just need straight answers and facts. The more I know the more I can ask the right questions and help her.
Thanks,
Cheryl
 
H

holmfamily1992

New member
Genetics testing

THis is a question for Steve....I know that I have posted twice,,,sorry.


Hello,

Here were the test results

CFTR Full Gene Known Mutation R117H
Novel Variants None detected
TG repeat / Poly T Variant (TG)12-5T / (TG)10-7T

Further family testing needed....
What does the mutation tell us and What will our blood tell you?
Devos Childrens Hospitol tells me that he has Atypical CF....

Thank you, Tina
 
V

valigirl21

Guest
I wanted to ask if you know of anyone recently who has had an Ambry full panel come back negative, but still be diagnosed with CF? That is my current situation with my son.
 
H

hopesiris

Guest
Hi Steve,

Ambry ran my testing last year and I have DF508 and T5/TG12 (symptomatic CFer). My question is about my nephew, my brother's son. We don't know if my brother is a carrier. My brother's wife is hispanic and I do not know her carrier status either.

I'm wondering if it makes sense to test my nephew for my two mutations, and do further testing if one is found. He is 5 yrs old and has had a history of failure to thrive, respiratory issues and GI issues which up til now have been attributed to asthma, allergies and autism. What do you think?

Thank you,
Bonnie
 
V

valigirl21

Guest
I know this was for Steve, so I have to wonder also, as thiese are some of the diagnoses of my son. I wonder if there is any corralation between these disorders?
 
V

valigirl21

Guest
I know this was for Steve, so I have to wonder also, as thiese are some of the diagnoses of my son. I wonder if there is any corralation between these disorders?
 
S

StevenKeiles

New member
Cheryl.

We have seen the S1235R mutation in patients with both GI and pulmonary problems, so it can go either way. If she has not already been tested by us, you can have the doctors at Boston Children's order our CF Amplified test at your next visit. We do all the CF testing for Boston Children's so it should be no problem for them to order it on her.


Tina,

The reason for testing the parents would be to determine if the R117H mutation and the 5T/12TG are on the same or different chromosomes. If they are on different chromosomes then that would result in an atypical form of CF.

Steve
 
S

StevenKeiles

New member
Bonnie,

Given your nephews symptoms and since we know there are some mutations from half the family, he should definitely be tested. Since there is also another half of the family that is not related, other mutations could be possible as well. Therefore he should also have the CF Amplified test, which is the most comprehensive test.

Valerie,

There is no genetic test that is 100% so there are some patients who will have CF that do not have any mutations identified. It also depends on the results of the other tests, such as sweat tests, history of infections and other symptoms. The doctors need to look at the entire picture, and not just one test, even the Ambry test. However, if the suspicion is not that high and our test is negative, it is not likely to be CF.

Steve
 
H

holmfamily1992

New member
Thank you Steve,

So If they are on the same does that mean that it isnt CF? And if it is atypical Cf then should he be treated with similar meds as someone with typical Cf?

Thank you, Tina
 
C

Cherylwithone

Guest
Steve, I know the parents are carriers. Should the parents be tested also for the one mutation they have. Does this help with treatment at all. Iam going to ask her doctors to have her tested by you guys if they did'nt use your company to start with. I already talked my insurance Tufts and they will pay. Thanks for the information, it really does help alot.
Cheryl, Daughter Malora with CF
 
H

hopesiris

Guest
And if it is atypical Cf then should he be treated with similar meds as someone with typical Cf?

Thank you, Tina</end quote>



Yes Tina. I have the 5T/TG12 and I do airway clearance-just less of it and take less meds. Treatments are individualized and based on current health, so when the disease progresses I will need more treatment. Hope that helps.

Bonnie
 
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