Welcome Ambry Genetics

[sdelorenzo]

Hi all. We received the results of our 14 year olds full genetic sequencing panel earlier today. He had an inconclusive sweat test. His results show he has what the CF center called 2 benign mutations--t854t and q1463q. The nurse said that as far as they were concerned he did not have CF. And, that benign meant that these mutations should not show symptoms. All of his testing has been done through the children's hospital of phil.
Any advice/input would be appreciated. He is still not well and has been sick since august. He started with chronic and pervasive diarrhea (8-10 times every day). His entire GI tract has been scanned, scoped, and biposied--only significant result was that when his small intestine was biopsied, he was not producing enough lactase. History of asthma and some other odd medical problems. He has no appetite, lost 15 lbs, and can't seem to gain. AuntCob

 

[katedids74]

My older sister and I have CF. My younger sister does not but was told she was a carrier when we were young. She is to be married in three weeks and needs her finace to get tested. What is the exact test he needs and the easiest way to get this done? Do you have a form he can take to his PCP? Thank you,

 

[StevenKeiles]

Aunt Cob,

those are not mutations, they are common variants that do not cause disease, also referred to as polymorphisms. Not sure where he had his testing and so I don't know if that was the most comprehensive or not. We do not report those variants so I know we did not do the test, not all labs perform the same comprehensive testing that we do, but it would be up to the doctors to determine if he has CF or not.

best of luck,

steve

 

[StevenKeiles]

Kerry,

Probably best for him to call our client services to help him figure out the best way to get tested. The best test is our 508First or our CF Amplified. There is a test requisition form on our website for his doctor, but it is probably best to call us before to make sure the sample is directed here.

thanks,

Steve

 

[MomOfTwins]

Questions

Steve,

You are an amazing resource and so kind to field everyone's questions. I have four to add to the mix:

Question 1: My husband has DF508 and the 5T allele. He has CAVD but no other symptoms. Given the current clinical landscape, would he be considered to have CF?

Question 2: I carry L320V. I have had very strange and unexplained issues my whole life: FTT as infant, digestive problems, gall bladder disease/removal at 26 despite being slender with low fat diet, awful respiratory allergies/reactions. Negative for celiac. Could these mild symptoms be related to the CF gene? Is there any research currently being done on carrier-related symptoms?

Question 3: My 11 mo son, Wyatt, has L320V and DF508. Two negative sweat tests (8 and 10) at 2 and 6 months old. Severe GERD and FTT (otherwise, a lovely, delightful and engaging child). Is it possible for his sweat test results to change over time? Should we have him sweat tested regularly?

Question 4: Is there any information out there on anyone with L320V and 5T allele? If we were to have a child with those two mutations/variants, is there a likelihood that he/she would have more than mild disease?

 

[StevenKeiles]

Questions

Here are the answers. See below

Question 1: My husband has DF508 and the 5T allele. He has CAVD but no other symptoms. Given the current clinical landscape, would he be considered to have CF?

Yes, this is a form of CF and he could develop more symptoms later in life or not.


Question 2: I carry L320V. I have had very strange and unexplained issues my whole life: FTT as infant, digestive problems, gall bladder disease/removal at 26 despite being slender with low fat diet, awful respiratory allergies/reactions. Negative for celiac. Could these mild symptoms be related to the CF gene? Is there any research currently being done on carrier-related symptoms?

Not likely, but there are some carriers who do exhibit some symptoms, so it is possible that being a carrier increases the risks for some of these things. But the L320V appears to be a very mild mutation which does not cause any problems in some people.

Question 3: My 11 mo son, Wyatt, has L320V and DF508. Two negative sweat tests (8 and 10) at 2 and 6 months old. Severe GERD and FTT (otherwise, a lovely, delightful and engaging child). Is it possible for his sweat test results to change over time? Should we have him sweat tested regularly?

Yes sweat tests tend to increase over the years, however if he is doing well and does not have any problems then I am not sure what it matters if his sweat is 15 or 20 or 30...If he ends up having any issues then he should be evaluated.

Question 4: Is there any information out there on anyone with L320V and 5T allele? If we were to have a child with those two mutations/variants, is there a likelihood that he/she would have more than mild disease?

those are both very mild so it would be even less than with the L320V and the deltaF508. Never any way to know exactly but it is very likely not to cause many if any problems. Maybe CBAVD like your husband but maybe not even that.


Hope that helps.

Steve

 

[cffather]

Questions

Steve,

Thank you in advance for you help. Looking over this thread you advice and guidance is amazing!

my daughter was diagnosed about 6 weeks ago with CF, 110 sweat test and genetic test have not come back yet. she is 19 months and was very sick for a while. we spent 10 days in the hospital and she is doing great now, no issues at all right now.

my question is about me. i have always had some lung issues, once in college they even tested me for CF but not at a CF center. i never got the results myself. they never figured out what was wrong with me, my lung capacity was down to about 40% but that is all i was told. then one day i coughed up cups of old blood and mucus and have been better ever since. i still cough up thick mucus every morning but only about a teaspoon full and its dark brownish. the more i learn about CF the more i am wondering if i could have some mild case or one of those symptomatic carriers. my mucus taste just like salt, i have asked around but no one can tell me if their mucus tastes or not too. i dont want to ask my family much since they are so emotional over my daughter still. ( she is the first grand baby on all sides, so she is spoiled! )

does is sound like i need to get tested myself or since i am almost 30 and no severe problems i am out of the woods? also how would i get tested if i wanted too? ( call you or ask a Dr )

 

[StevenKeiles]

Questions

CF father,

We have diagnosed many parents with CF after they have had a child diagnosed, so this is not an unusual occurrence. It is very possible that you do have a form of CF (albeit milder) but something that may need to be treated differently or followed closely as you get older. therefore I would recommend getting tested to know for sure where you stand now.

It would probably be best to speak to your daughters CF clinic and they can refer you to the adult clinic for evaluation and if testing is something they want to do, it can be ordered by them. Let me know directly if you have any problems with this approach.

good luck,

Steve

 

[pmotta]

My beautiful four week old grandson has been diagnosed with having two gene mutations for CF. The F508 and a very rare gene, c.3849+10kbc>T. Has anyone heard of the latter and of this combination and provide me any information with regard to severity of symptoms, etc. just looking for anyone who has the same. I know it is mostly a wait and see game..but any information would be greatly appreciated! Thank you All!

 

[mom2cameron]

How long does it usually take for the CF doctor to order blood work to find out the second mutation? My son has 2307insA found on his newborn screening test and had 2 sweat test done 101 and 105. Ive asked the doctor to do the full test to find the other mutation but seems to be in no rush. Why the wait? He is now 10 months old and was diagnosed at 1 month through the sweat test. Thanks for any replies.

 

[StevenKeiles]

pmotta,

the 3849+10kb mutation is actually not that rare. It is not the most severe mutation but it is not real mild. So it is probably somewhere in the moderate range. With this combination some patients could have a more typial CF presentation but many will be a little milder than that.

Good luck and congratulation on your grandson.

Steve

 

[StevenKeiles]

Lyndsi,

Most doctors will probably order the genetics right away. Given the sweat tests there is no question about the diagnosis so the doctor probably feels there is no rush. You should discuss this at the next visit.

Good luck,

Steve

 

[Mommy2Zeke]

Steve,

How long does it typically take for results to come back on a 508first test? I am having my blood drawn tomorrow. Nervous, but I know it's the right step to take. I'm worried with my symptoms that I might be exposing my son (who is DDF508) to more than I know. I've had atypical pneumonia twice in the past year and all my life I've gotten coughs that can last for months on end before finally dying down. I have severe chronic sinus problems that have required surgery, and I have some lung scarring. Are you seeing more late diagnosis in parents of children with CF since newborn screenings have been instituted?

 

[antonette1279]

Is it common for the genetic testing to take almost 3 weeks? We have been waiting for the results for awhile and they had told us 5 to 7 days...that was almost 3 weeks ago

 

[JaimieC]

Hi Steve,

I am 15 weeks pregnant and we recently found out our daughter has CF (we did CVS testing). I am a carrier of the r553x mutation and my husband is a carrier of delta f508. What can you tell me about the combination of these two mutations and what I can expect as far as the severity of the disease? I read all 815 posts in this thread and did not see that specific combination of mutations addressed. Any information you can provide me would be greatly appreciated.

Thank you.

Jaimie

 

[JaimieC]

duplicate post - sorry

 

[anchored]

We found out that our son has one mutation detected through Ambry called C2752-26a > g. Can you shed any more light on this mutation. He has symptoms and we have an appointment with a CF center but in the mean time we're trying to educate ourselves as much as we can. Thanks.

 

[anchored]

Steve,

I have one additional question. My husband is third generation from Europe. Grandfather from Hungary and grandmother from Italy, father mixed Irish descent. Is my understanding that Ambry's process will detect both European and American mutations correct? I was reading a European genetics journal article and they are having issues with just catching western European mutations and having to fix that for people of southern and eastern descent. If our son has two mutations and one was more typically found in my husband's lineage would we have found it with the 508First test? Thanks again.

 

[Tylersmom28]

Just wanting to know more about my Son's mutations G27X and Q493X..we were told that they are rare mutations and one is even more rare b/c it did not show up when I was tested to see if I was a carrier..that test came back neg. so we thought we were in the clear, but my Son ended up having CF so they said mine was rare. Does that mean that he will have a milder case?

 

[palinsyaya]

STEVE
MY GRANDSON HAS 3 MUTATIONS F508,L467P,AND M47OV.
COULD YOU GIVE SOME INFO ON THE LAST 2 MUTATIONS WHAT CLASS THEY ARE IN AND WHAT DOES THIS MEAN FOR MY GRANDSON?
THANKS