Welcome Ambry Genetics

[StevenKeiles]

Stringbean,

There must have been some misunderstandig about our report, because our reports would never say that someone does not have CF. If we were to only find one mutation in a symptomatic person our standard comment would include the following...

This patient is a carrier of the (insert mutation here) in the CFTR gene which could be contributing to the symptoms of this individual. No other mutations, novel variants, deletions, or duplications were detected in the CFTR gene. This result greatly reduces the likelihood this patient is affected with cystic fibrosis. However, approximately 2% of patients with classic CF will have only one mutation detected.

I hope that helps clear up your questions. Best of luck,

Steve

 

[stringbean]

Thank you for your extremely prompt reply! Yes, that clears things up quite a bit... The pulmonologist just read me the part about "is a carrier", but I guess she paraphrased the part about "reduces the likelihood..." to "this patient does not have CF" -- and I was hugely confused. The standard answer makes so much more sense to me.

Thanks for the clarification!

 

[bkc3]

my son has DDF508, I have some symptoms and a marginal sweat test...37, very small sample though..only one arm would sweat. The docs sent out for Ambry testing, but nothing came back yet...is it safe to assume that one will be Df508? if the other is unknown, can I still get a definitive CF diagnosis?

 

[Mathew1980]

Steven (Ambry)

hi Steve,

Can you tell me any information on the mutation

ILe336fs

Can you say what type and severity associated with this gene?

Thanks

Mathew

 

[StevenKeiles]

bkc3,

Yes you are correct, you must have at least one deltaF508. Let's wait and see what happens with the results, but the diagnosis is not based on just one thing. The doctor needs to take into account everything to make a diagnosis so the genetics are just one important piece to the puzzle.

Mathew,

I am not sure what that mutation means, you need to check on the wording and let me know. However, if the mutation is I336K then it would be considered a severe CF mutation.

Steve

 

[Mathew1980]

Hi Steve,

We received our letter from genetics from our local hospital and it says the mistake in our family has been found it was written like this

||e336fs

Have you ever heard of this mutaion?

Regards

Mathew

 

[StevenKeiles]

Matthew,
I would call the genetics office and get clarification of the results. I cannot exactly figure out what they are referring to based on that nomenclature.

thanks,

Steve

 

[Mathew1980]

Thanks Steve,

As I am in the UK, we tend not to be hung up on genetics!!

Would it be acceptable if I scanned and emailed you my letter? then you might be able to explain it in English!!


Thanks

Mat

 

[StevenKeiles]

Mat,

Yes you can email it to me at skeiles@ambrygen.com.

Steve

 

[RebekahsMom]

Steve,

My daughters mutations are DF508 & R1158X1. I searched this topic for her 2nd mutation, but there was no match. Can you tell me about this? All I was told was that this was one of the more rare mutations.

Thank you

 

[StevenKeiles]

Robin,

This mutation, R1158X is not that rare, but it would be considered a typical CF disease causing mutation. this is also known as a stop codon mutation so it would qualify for the clinical trials from PTC regarding PTC124.

best of luck,

steve

 

[Kate32]

I was wondering if you could give me information regarding my CF mutations. I had genetic testing done about 6 years ago (through Ambry I believe) and was found to have one deltaF508 mutation and one novel mutation, K598E. Has the novel mutation been seen in anyone else since that time? I am considered to have atypical/mild CF. However, it's also been said that it's possible that both mutations are on the same gene and maybe I'm a carrier for two mutations rather than actually having CF. I am treated as though I have mild CF, but I would like to know for sure (and further family testing is unlikely to happen). I have some mild symptoms of CF, but have been healthier for a while and I think my CF doctor doubts by diagnosis at this point, even though I fit the symptom presentation for many years and just happen to be in a "healthier" phase. I saw a genetic counselor and two other CF doctors at the same center and they had no doubts about my diagnosis then. It bothers me that I don't really know what's going on. I would like to know more about the K598E mutation if anything is known. Thank you so much for any feedback you may have!! -Kate

 

[StevenKeiles]

Kate,

We have still not seen this variant in any other cases so unfortunately there is not any more that I can add at this time.

Steve

 

[Kate32]

Thanks for getting back to me. Even though you don't have any more information on my specific genotype, do you know how common it is to inherit two mutations on the same gene? Has this been confirmed with other cases, and were these individuals considered to have CF or to simply be carriers? I really appreciate your feedback. Thanks- Kate

 

[StevenKeiles]

Kate,

It is possible to carry two mutations on the same chromosome. Parent studies would be needed to know for sure. If you have two mutations on the same chromosome then you are just a carrier.

Steve

 

[Boser]

Hi Steve,

My son was just diagnosed with CF and on the paperwork everything says he has to rare mutations. Can u please tell me if this is the case. The two mutations he has are 621+1G+T and A455E? Also can u tell me if the 621+1G+T is the same as 621+1G right arrow T?

Thank you

Heather

 

[StevenKeiles]

Heather,

Yes these are the same mutations. Regarding rare mutations, I would say yes these are rare mutations. However, I would also say that there is really only one common mutation and that is deltaF508, so basically every other mutation would be considered rare. However, in the context of all of the other mutations these are not that rare and in fact are a little more common than most other mutations.

Steve

 

[mamaScarlett]

Hi Steve,
My mutations are DF508 and G551S. I remember speaking with a gen counselor and she explained the amino acids that the mutations affect.
Can you tell me what amino acid G551S changes, and what it turns into?
And the same for DF508-am I right that it affects phenylalanine, or is it a different change?

Thanks so much! This gets confusing, but its so interesting to me. I'd like to know more about my newly discovered mutation.

 

[StevenKeiles]

Christian,

The deltaF508 is a deletion of codon #508 which codes for phenylalanine. The G551S is a substitution of Serine instead of Glycine at codon #551. These are two different types of mutations. The G551S is also a fairly rare mutation.

I hope that helps.

Steve

 

[mamaScarlett]

thank you so much steve, very interesting!