Welcome Ambry Genetics

[tesorotiffa]

Hi Steve! I am a 29 year old female with CF. I was just recently tested for mutations and here is what the report said:

Delta F508
R785X

These two both say they are benign:
S1235R
and some other one that apparently doesn't have a name

Poly T: 7T and 9T

I'm not quite sure what the Poly T information means. My main question is this though: My husband would like to be tested to see if he is a carrier. Based on my results, would we need the full panel testing or the smaller scale testing for him? Also, my clinic is located 4 hours away. We would like to do this before the end of the year. How would we go about doing this in our hometown?

Thanks so much,

Tiffany

 

[Beccamom]

Steven (Ambry)

<P><BR></P>
<P><FONT color=#000000 face=Verdana>Steve</FONT></P>
<P><FONT color=#000000 face=Verdana>I think I understand the recessive inheritance of the genetic mutations. I am wondering about the variants. I have one daughter tested by Ambry and a 5T variant was found. She has no symptoms. My other daughter's genetic work was done by a different lab and she has G542X mutation, M470V polymorphism, 8G>C polymorphism, and 7T/9T variants. Does that mean that between my husband and me we have the 5T, 7T, and 9T variants to pass on to our children?</FONT></P>
<P><FONT color=#000000 face=Verdana>Jen</FONT></P>
<P></P>

 

[StevenKeiles]

<P>Zinnia,</P>
<P></P>
<P>the deltaF508 goes with a 9T, so a 5T/7T could be an error. I would advise retesting to be sure since that would be avery unusual result. I expect the deltaF508 and the 5T/12TG to be on opposite chromosomes and that is why the IRT and sweat test were both elevated.</P>
<P></P>
<P>Not unusual for many babies to not have symptoms for months or even years. </P>
<P></P>
<P>best of luck,</P>
<P></P>
<P>Steve</P>
<P><BR></P>

 

[StevenKeiles]

<P>Tiffany,</P>
<P></P>
<P>since we know that you have two CF mutations and are definitely going to pass on one of them you may want to consider more comprehensive testing on your husband.</P>
<P></P>
<P>You could do a mutation panel that would detect only those mutations on the panel, we have a 102 mutation panel at Ambry that detects about 91% of mutations or you could do the CF Amplified test that can detect over 1800 mutations and is 99% detection.</P>
<P></P>
<P>Either test can be ordered through your local doctor so you would not need to drive 4 hours to have a blood test.</P>
<P></P>
<P>You can call our client service department if you wanted more information and you can also see a genetic counselor locally who can arrange for testing. go to <A href="http://www.nsgc.org">www.nsgc.org</A> and click on Find a Counselor.</P>
<P></P>
<P>good luck,</P>
<P></P>
<P>steve<BR></P>

 

[StevenKeiles]

Steven (Ambry)

<P>Jen,</P>
<P>Everyone has two copies of the poly T, most likely one of you is 7T/9T and the other is 5T/7T. Only the 5T has any consequences, the others are normal variants.</P>
<P></P>
<P>Steve<BR></P>

 

[ElenaFalcon]

Steven (Ambry)

<P><BR>Hi Steve, thank you so much.<BR><BR>My 1yr daugther's first mutation is DF508. Sequencing test revealed another absolutely new mutation - p.Phe1078Ile or c.3232t>a in exon 20 CFTR. As you responded to mypost here- the second mutation is very rare.</P>
<P>Can you please tell us which class and/or category p.Phe1078Ile (or c.3232t>a) falls into? I was told different things that this mutation is missense or "sequencing" or "unknown class" mutation. I'm asking this because i've learned about the potential of kalydeco to help in some other classes or categories including some missense mutations. </P>
<P>Thank you, <BR>Elena </P>

 

[samb]

Dont know if you can help but i am looking for some info on my daughters gene 3905INST thanks! The other is f508

 

[cinderellasmom]

Steve,

First of all I am amazed at the information that you have been able to help people with. I read this forum for pages, and pages (probably 11 or 12, I've been reading for the last two hours) just to see if anyone mentions that they happen to have both of my daughter's mutations together. I have seen a post about one of them, and then later I would see someone post a question about another, but not really asking about the mutation itself. My daughter had her test done in 2001 when she was only a few months old ( I believe it was done that October, if I remember right). Her mutations are: G542x and R1162x. I have looked on the internet for most of my summer break (I'm a teacher), and have been looking for many months on any information that maybe out there about these mutations. Not a lot was said to us years ago when we were diagnosed at Tulane regarding mutations, and we were just told she had a "mild case". At that time, she had the pancreatic inssufficiency, but didn't show any lung problems yet. She developed her first lung infection the summer before kindergarten. She has had many infections since that time. She was hospitalized 6 times her 2nd grade year, 2 times in 3rd grade, 3 times in 4th grade, (jan. she cultured staff in her lungs?) and this summer was in 19 days for achromobacter xylosoxidans, (was told this could've come from the environment...water or soil?), and again in October for 9 days for pseudomonas. We were told her lung part is starting to progress more. She is 10. I am interested in any info. you may have on possible backgrounds for the mutations, as I only know I have Irish(12 generations back) and Scotch ancestry ( learned this summer my great grandfather was immigrant from Scotland) on my daddy's side, (possibly some Native american ancestry very far back - haven't been able to trace how far back this goes) not sure about momma's side. My husband's side has German (grandparents were immigrants from Germany) and Scottish. The whole DNA side of things is very interesting, that's why I've spent many nights and days trying to find out anything I could about the two mutations together. Thanks in advance for any information you can provide.
Rebecca in Mississippi (mom to Hannah 10 years old w/CF )

 

[kellysmithfa]

My daughter has been getting sick since she was about 4 months old. She has had klebsiella 3 times and pseudomonas 3 times and a few other bugs. She is 5 years old and recently had 2 pneumonia's in the last 2 months. We had the big Ambry test done and it was neg and the sweat test was neg. We have had a pulmonologist that said her lungs look like CF and others that don't. We have seen immunologist and they swear up and down it is CF and the pulmonologist think it is immune. She has no stomach problems. One Doctor told us they may not know how to look for a gene that would cause only lungs to be affected. She was tested 5 years ago. Has the test changed any? She does not have primary ciliary dyskinesia.

 

[samb]

I am wondering if there is any info to give on the gene 3905inst alone or with a deltaf508 gene. Thanks so much

 

[cgiatzakis]

Dear Steve,
I am heading a small molecular diagnostics lab based in Heraklion, Crete, Greece.
We just had a case of a fetus with W496X on one chromosome and c.-812T>G on the other, picked at CVS testing. Do you have any experience with clinical presentation of the c.-812T>G variant?
I have already contacted the group in France that reported this variant on a patient with dF508 on the other chromosome but they have lost track of this patient reported 17 years ago. I also think there is at least one more person in this forum that carries the c.-812T>G.
Your help is greatly appreciated.
christoforos

 

[cgerhardt]

Hi Steve I have 3 childern my 6 year old was just had the Ambrey test done because of family history and chronic broncitis which he was just recently on 3 rounds of antiboitic and oral steroids. His test came back 5t 7t . My 4 year old was tested 2 1/2 years ago came back the same 5t 7t and she was failure to thrive along with respitory problems. My 3 year old was tested the same time because of chronic respitory problems and digestive problems he has been hospitalized 6 times has tested positive for psudomonus and maltaphlia he has 7t 7t. Do you have any more info on these variants. My in laws had 2 childern with classic CF one passed away in 1978 as an infant and another in 2000 she was 18.

 

[canilucas]

I am new to this site.. I have some questions. If each parents give one CFTR gene and one variant, then how come my daughter's gene sequencing only identified one mutation? Shouldn't there be a variant or two with that? She had the full Ambry CF amplified test in 2011. She is heterozygous for Deltaf508. They say she is a carrier. But has many resp. symtoms that still leave me wondering if there is another gene on the CFTR gene that is unidenified, or another faulty gene is intereacting with the abnormal CFTR gene and causing all this inflammation.. that is not discovered yet.. Please respond!! Thanks

 

[BES]

Hi Steve, My 6mth old testing came back with Mutation c.1340delA (also known as c.1471delA) which we know is a known CF mutation. Her second was p.E257G (also known as c.770A>G). I can't seem to find any information on that variant. Does this have charateristics of CF? My Daughter shows many signs and symptoms of CF, but we are at a loss with this unknown variant. What information can you give us? Thanks from a very concerned Parent.

 

[JennifersHope]

Hi Steve, I had posted about a year and half ago, I have DF508 gene and then one that has not been or had not been described at the time which is q1330e, I was undiagnosed with CF after 10 years of having CF at an old center I went to based on one negative Nasal PD, however my new place I am going to is questioning that since I am culturing several "CF bugs now"

I was wondering if any progress was made in the year in the year and a half with the Q1330e? Thanks for any help

 

[ncrume]

Hi I'm Natalie. I needed an opinion about something even though no one in my family has been diagnosed with CF. My oldest is 4 and has never had any major health problems. His problems have been ear infections. He had a set of tubes for 3 years and continued to get intermittent ear infections (not a ton but still having them) When it was time for those to come out the ENT thought that he needed another set and to have his adenoids removed. He also wanted us to see an allergist. So we did those things. His allergy testing was negative. The allergist drew some antibody testing that came back normal. He also suggested we have the sweat chloride testing done just to rule out CF even though he had the newborn screening in 07. He says that panel is limited and need to have the test just to rule out. I thought this sounded ridiculous bc he'd never had any respiratory problems, no pneumonia, no GI symptoms, etc. and we never did it. So, anyway he's had his new set of tubes in for about 4 months and recently had another ear infection. So I hadn't given it much thought for a while. He does have a history of getting this terrible sounding barking cough. It's like a bronchitis type cough. He's never required nebs but has required antibotics and steroids a few times. It is usually in the colder months. This hasn't happened a ton but enough that it made me wonder about if I should consider having the test done. Usually the ear infections come after the cough starts. He had a chest xray after the last time he had to have steroids and it was fine. His cough was so bad he couldn't stop and was throwing up from the coughing. It probably hadn't been that bad for a year or more. So, do you think it is worth the time (we have to drive about an hour to Nashville) money and trouble to do it? Or in your opinion are these just random unrelated symptoms that have nothing to do with CF. I should also add that we have no one in our family that has known CF. My gut reaction is that it isn't necessary but I just don't know enough about it. Sorry to ramble but I appreciate anyones input.

 

[MyBabyCeline]

Hi Steve,

I would like to have my daughter retested since I don't really trust her first results. Is it possible for me to send a blood sample internationally? And if I do send and ask for the CF amplified test how long should I expect the results to take? And can I expect and interpretation of the results?

Thank you

 

[lilmac1177]

<span style="font-family: tahoma, arial, helvetica, sans-serif; font-size: small; color: #3366ff;">i am not at all familiar w/ the different genetic mutations and what they mean... </span><span style="font-family: tahoma, arial, helvetica, sans-serif; font-size: small; color: #3366ff;">i have F508del and 3659delC. any information you could provide would be appreciated</span>

 

[StevenKeiles]

Samples can be sent from any country, we receive them from all over the world. The results usually take 2-4 weeks depending on how much testing we need to do. Tests must be ordered by a phyisican as we have to send the results back to the ordering physician only and not directly to the patient.

If anyone has questions on how to order they can look on our website or call our client services department.

Steve

 

[StevenKeiles]

Natalie,
It is likely you are correct, but CF can present in may different ways and usually there is no family history so that doesn't reduce your odds.
A normal sweat test is the best way to rule it out, I understand the problem with driving to get it done. I am sure the doctor just wants to be thorough. You may want to consider a genetic test which if normal would also basically rule it out. This can be done with a blood test so it can be done through the local office or hospital. You would need to make sure they do a comprehensive genetic test such as our CF Amplified test.
best of luck,
Steve