Welcome Ambry Genetics

[StevenKeiles]

Laura,

You are correct, this is newer information which we have added to our standard test for the last few years. It would not have been analyzed back in 2005. However, it is something that can be done now just to look at the TG and not have to redo the whole test.

From what you describe, it seems likely your kids have 12 or 13 TG repeats.

Steve

 

[StevenKeiles]

Steven (Ambry)

Regarding the mutation G402X, I don't think this is correct. you should check again, I think you may be thinking of G542X which is a more common classic CF mutation. In combination with deltaF508 I would expect classic CF.

Steve

 

[ReneeP]

Steven (Ambry)

Steve,

I apologize if I am repeating a question. I spent an hour looking through this thread but didn't see anything...

I am wondering what you can tell me about modifier genes. A couple of specific questions I have are:

Can a patient be tested to see what modifier genes they have?

I know there are studies being done right now, but is there any info available as to which modifier genes do what? Which ones cause the mutation to be more severe and which cause it to be less severe...

I have two daughters with CF, both DDF508. There are such variations in severity of DDF508 patients... I am just curious where we are in the study of modifier genes.

Thanks for any info!

 

[StevenKeiles]

Steven (Ambry)

Renee,

As you said a lot of work is being done on them now. There are no clinical tests currently available since we are not sure what we should be testing for. However, when one test is ready it is very likely we will be the first ones to offer it.

Steve

 

[jacket2230]

Steven (Ambry)

HI,

I'm new to this. I have three boys 5,3, and 10 weeks old. My nephew went in to see the ENT DR (sinus infection) and he said as a routine check they would do a sweat test to check for CF. They did the test and the first was was 49 the second time he had to go in for a sweat test he was a 61. I went to my pediatrician to ask her if my newborn's screening was normal for CF and she said yes. She did want to test my 5 and 3 year old. They are perfectly healthy kids , but I agreed and their sweat test was 47 and 44. She went ahead and sent off for the Ambry CFTR Amplified test and tom will be 2 weeks. I was wondering how accurate the newborn screening was and Steve if there is only one Ambry lab and the results are with you? I'm so upset... the waiting is unimmaginable. Thanks for your time and I see you are so thourough in all your topics.

 

[StevenKeiles]

Steven (Ambry)

jacket,

I certainly understand your anxiety, but unfortunately the results do take that amount of time. The average time for our results are around 3 weeks with some taking longer. The results will be faxed to your doctors office as soon as they are completed. And yes there is only 1 Ambry.

Hang in there and good luck,

Steve

 

[frysk]

Hey Steve,

my seemingly healthy 5 month old son was tested by Quest and I was wondering if you had any thoughts on his results. He tested positive for DF508 and Q1012P. "The Q1012P novel variant is caused by an A>C change at nucleotide 3167 in exon 17a of the CFTR gene." Also, what is the difference between a mutation and a variant. I apologize if that has been asked before but I could only get thru the first 10 pages of this thread!

thanks.

 

[StevenKeiles]

I have not seen the Q1012P variant before so other than saying it is very rare, I cannot add anything. Basically a mutation is considered disease causing and a novel variant just means that it is a new change that is unknown whether it is disease causing or not.

Steve

 

[Simone14]

Hi Steve,

My son, now 7 months old has been diagnosed with CF. His sweat test both times came normal (15 mEq/L). The following mutations were detected on him -
3849+10kbC>T and T388M on one chromosome.
(TG)11-5T/(TG)10-7T on another chromosome.

What does this imply? How sever these mutations are? Can you please elaborate further? What future problems are we looking at?

Thank you.

 

[StevenKeiles]

Simone,

The 5T/11TG would act like a very mild mutation. So even with a severe mutation on the other chromosome, it may cause few if any problems. Obviously there is always variability so someone could develop such symptoms as chronic sinusitis, atypical asthma, and pancreatitis. These symptoms could appear in childhood or maybe not even until adulthood. It is also possible that someone could carry these mutations and never develop any significant symptoms. So I would not be waiting around for something to happen, but should any of these types of symptoms develop I would make sure it is made known about carrying these mutations and having a form of CF.

Steve

 

[Simone14]

Thank you Steve for the reply. Are 3849+10kbC>T and T388M severe forms of mutation?

Thank you.

 

[Simone14]

Hi Steve,

Another question, what is the probability of having CBAVD in my son?

Thank you.

 

[StevenKeiles]

Simone,

There is no way to say for sure, it is definitely not 100%, but I certainly would not be surprised if he did.

Steve

 

[StevenKeiles]

Those mutations are not the most severe but not the most mild either.

Steve

 

[KayCee1234]

Genetics testing

Hi Steve,
I know that Ambry tests for Cystic Fibrosis, however, I don't have CF. I am wondering tOhough if you folks have found any genes related to Systemic Lupus Erythmatosis and Sjogrens and Celiac Spru. I have all of these and my father had Antitripson Level A deficiency and passed away due to COPD. I am just wondering since the CDC has finally ruled that Lupus is inherrited. There are 3 out 5 of us girls in my family with Lupus and Sjogrens. I am wondering is all.

Thanks,
K

 

[Simone14]

Steve, Thank you so much for the clarification.

 

[beccasmom]

Hi Steven

I have a question regarding the M470V variant. My children carry the G85E mutation. They also have Polysequence 5T. They are homozygous for the M470V and heterozygous for G85E. So they carry 3 mutations. I am confused if the M470V is a disease causing mutation. Our insurance does not cover Ambry but does cover Genzyme, so the testing was all done with them. The sequence analysis says that M470V may cause disease. My children all have positve or boarderline sweat chlorides. They all have recurrent sinusitis, they all have aspergillus and 2 of them have cultured psuedomonas. We have been seen at two different CF centers for insurance reasons. One of the centers says the kids have CF the other says they do not. I am confused. Some of the information I have found says M470V is disease causing especially with the poly5T. Please help.

 

[StevenKeiles]

Beccasmom,

If the G85E is on one chromosome and the 5T is on the other then they do have a form of CF and that would explain their symptoms. About one half of all people carry M470V so i do not think it is significant by itself, the more important finding is the 5T, it is possible the M470V makes it more significant but it would be with just the 5T and the G85E.

Steve

 

[StevenKeiles]

Genetics testing

K,

We do not do any testing for the conditions you mentioned, although we do test for Alpha 1 Antitrypsin which is inherited and if that is what your father had you should probably be tested for that.

Steve

 

[KayCee1234]

Genetics testing

Hi Steve,
Thank you for your answer. I do definitely intend to ask the Rhuematologist that I see if I could have the antitripson level A deficiency as I have a lot of respiratory problems. The doctor has told me that it is due to Sjogrens and Lupus inflamation of the lungs, but I have a hard time believing this. Hmmm makes me wonder as I also have a brother that is Antitripson Level A Deficient and it scares me big time. Again thank you for your answer. I am wondering if there is any lab that you know of that has isolated any genes responsible for Lupus and Sjogrens and Celiacs Disease.

Thanks,
K