Welcome Ambry Genetics

[ReneeP]

Hi Steve,

I have a couple of questions for you. I have two daughters with CF, both Double Delta F508. I, myself, have always had mild respiratory and digestive issues. None anywhere near as severe as my daughter's, but enough to know they are there. My husband has been on to me for years to have myself tested but I've never done it. I guess I figured the doctors would think I was nuts and I don't want to appear that I am trying to piggyback on my children's illness, if that makes any sense. I guess as a mother I feel that I should be taking care of them, not worrying about myself.

Anyway, my questions are:

1.) How likely is it that insurance would pay for the test when I haven't had any severe problems or required hospitalization?

2.) How do I get the Ambry test done? I mean, do I just tell the doctor that is what I want and assume they know what I am talking about or do I need to go to a specific lab???? I don't know how that works to make sure I am getting the right test done.

Thanks very much for your time.

 

[StevenKeiles]

Heather,

It is really difficult to guess, many of the patients we test with a similar presentation are negative. However, some people end up having an atypical form of CF, so either way is possible. We will just have to wait and see.

Sorry it took me so long to respond, I was out of the country for the last week.

Steve

 

[StevenKeiles]

Heather, not likely the dimple is related. They are referring to boys with an absence of the vas deferens.

Renee,

It is likely that insurance would cover it, we can also do a check for you on coverage before testing. Just go to our website and print the insurance preverification form and fax it in.

Also it is not uncommon for other family members to be diagnosed with a form of CF after the initial person has been diagnosed. It is also possible that just being a carrier is contributing to your symptoms.

Send me an email to my work email and let me know where your kids are going for care and it you could be seen at the same place if you have your own doctors and I will figure out the best place for you to be tested.

Steve

 

[dyza]

Hi Stephen, Have you ever came across, or could you give me an insight into myself having two RH117 (7T) mutations. I am 40 this year, have two kids, youngest has DF508 and obviously RH117. I attend Gartnavel in Glasgow ( Scotland), and the doctor there has found only two other people with this mutation doubled, he has not dx me, I have absolutely no symptoms, infact I have smoked for 22 years. He did find a man from a fertility clinic with this, lack of vas deference, no problem with that with me, the other is a newborn in Wisconsin.
Looking forward to any replie CRaig

 

[StevenKeiles]

Craig,

This is not that unusual since R117H is a more common mutation. However, in most cases it is a very mild mutation and two mild mutations in most people will be either asymptomatic or cause very mild symptoms that would often not be recognized as CF.

Since newborn screening has been in place there have been more of these identified, but again they are usually in newborns with no symptoms.

What can make the R117H more significant is when it is paired with a 5T/13TG. This is not that common, most people will have the 7T or 9T which makes the R117H very mild.

Steve

 

[briellemom]

Steve,
My daughter had the extensive genetic screening done through Quest Diagnostics. I am not sure how many they test for, but I know it is over 1000. She also had the deletion testing done. This was in early 2006. They could not find either of her mutations. Does Ambry test for more than Quest? Or have we done all that we can do for now?
Thanks,
Laurie

 

[LRL]

I have a question regarding 5T alelle and 508. My husband has CF and has Delta 508. Through testing, it has been determined that I have 5T alelle. We were told it is not recommended to go through PGD, as there is no life threatening impact of the two. Could you please clarify this? I understand the infertility issue is possible in men, but I am truly lost as to whether we should put ourselves through the choice of ended an embryo with 5T and 508 combination.

 

[StevenKeiles]

Laurie,

It looks like you have done all you can do for now. Based on those results it is unlikely she has cystic fibrosis.


LRL,

The 5T can cause problems in some people and can mean nothing for most people. However, one thing that determines how significant the 5T may be is the number of TG repeats attached to the 5T. Most labs do not test for this, however we can test for just the TG status if you would like. Most people have 10 or 11 and that is associated with a milder 5T. When someone has 12 or 13 TG repeats the 5T becomes more significant and if paired with another mutation ie. deltaF508. It is very rare but if you have more than 13 then it becomes like a regular CF mutation. I only know of two cases like this.

Let me know if there are any other questions,

Steve

 

[okok]

Hi Steve,

I just wanted to clarify that i believe Laurie's (Briellemom) daughter has already been diagnosed with CF based on her clinical symptoms (pancreatic insuffiency, etc) but that no mutaions have been detected and she is wondering if it woud be informative to have ambry testing.

 

[briellemom]

okok and Steve,
Yes, thank you for clarifying okok. She has definitely been clinically diagnosed. What are the chances that Ambry full-panel testing would tell us more than Quest full-panel testing? Or are they virtually the same thing? Our hospital uses Quest. Thank you!

 

[LRL]

Hi Steve, My husband has one copy of N1303K and one copy of the F508. A 97 mutation assay was completed on me and found no gene. It states my 5T polymorphism is in the intron 8 of the CF gene. Does this mean anything else?
Thank you so much for your assistance

 

[StevenKeiles]

Brielle,

The tests are virtually the same thing. Is it possible that something can be missed, yes but that is rare. Is is possible to have mutations that are not detectable by anyone's test, yes but that is less common.

LRL,

If you were to pass on the 5T in combination with one of your husbands mutations it is possible child could be asymptomatic, or have mild to moderate symptoms. It is very dependent on the number of TG repeats that are attached to the 5T. However, there is no way to know if any one individual will have more significant symptoms or even no symptoms. But assuming you do not carry any other mutations it is very unlikely to have a child with typical CF.

Steve

 

[elle]

Hi Steve, I am finally back after our meeting with a geneticist. My baby girl has one DeltaF508 mutation and the other is 3659delC (I had previously been told it was called Thr1176fs). I was told that they have *new names* for the mutations now that the labs use but that she herself (the geneticist) doesn't know too much about. As I said before, we are in Australia so I don't know if things are done differently internationally-?! Anyway, I am glad to know what the name is now so I can find out as much as I can about it. What can you tell me about 3659delC and about the combination of that mutation with the DeltaF508? Thanks so much for your time.

Kind Regards,
Elle

 

[chloeandmaggie]

Steve, We banked my youngest daughters cord blood. She is a carrier of CF but doesn't have it. I just wanted to know if you thought her cord blood could ever be used to help Chloe 7 with cf? Thank you for taking the time to answer all of our questions. Maggie

 

[StevenKeiles]

Elle,

The names are the same no matter where you are in the world. The correct name is 3659delC and it is probably a typical CF causing mutation. There is always variability, so I have seen patients that are classic CF and those that are milder with this mutation as one of their mutations.


Maggie,

I guess it is possible that the cord blood could be used to help treat or cure CF in the future, but I don't see anything in the near future along those lines. Of course time will tell more, but for now the focus is on other means of treatment.

Steve

 

[Childressj]

Steven
I was so lucky to find this great website yesterday and I have just finished reading this entire thread from you with all these questions. I am feeling pretty awed by all of this.
My Son Jordan (Trevor) recently underwent two Sweat tests first was 47 and second was 39. My pediatrician called in a "specialist" who had me come by his office and pick up an Amby test kit(it was purple) and then I had to take it and a piece of paper (I assume was the order that gets sent to you guys) to the lab down the road and they took his blood and said they would "take care of it" so I am now in limbo waiting (that was tuesday) I have no clue if this test will test all 1500 mutations or just 20 (I have found that I knew nothing) I have no Idea what to expect except that I have to wait for three weeks for the results. Trevor has been diagnosised with Asthma at 4 yr. old, chronic Sinusitis and many GI problems (tried to diagnos with Chrons) So I am eagerly awaiting the results so we can get him the help that he needs with CF or something else.

 

[Samsmom]

Hi Steven! I too have just recently discovered this wonderful site. My daughter is 13 and was diagnosed last year with CF. She had a positive sweat test and the Ambry full panel showed a mutation (G576A) that I was told was rare, but only the one mutation showed up. The cf docs said that she could have a second, rare mutation that has not been identified. What can you tell me about the mutation we do know? She does have cf symptoms, but they are generally mild. I guess I am wondering if she has 2 rare mutations, will her disease be mild since it has presented in mild form thus far? Thanks for your answers and all the work you are doing here!! It is helpful to so many people.

 

[LRL]

Hi Steve,
I apologize for all the questions, but you seem so knowledgeable. I was wondering if 5T would show up on PGD and if so, are there any harmful affects of doing PGD? Additionally, do you know of any restrictions as to when PGD could or could not be done (i.e. since it is an allele, they would not do it as there is no signficant risk of typical CF).
Thank you again

 

[StevenKeiles]

Thank you all for the kind words, it is very nice to hear.

Jennifer,

If Jordan is a 13 year old from Alabama we have the sample and it is being run now. The results should take 2-3 weeks more and they will be faxed to your doctor as soon as they are done.


Jean,

If your daugther is is from Kentucky, it looks like the testing we did on her did not include our deletion/duplication testing. This accounts for about 1-2% of all CF mutations. You may wish to speak with her doctors about doing this test. Regarding the G576A mutation, it is actually one we see quite frequently. It does appear to be a milder mutation. However, rare does not mean mild. You generally need two severe mutations to have severe disease, so even if she had an additional severe mutation, it would probably still be a more mild to moderate presentation.

LRL,

Doing PGD they will only test for something specific, there is no panel that can be performed using PGD. Typically they can only test for one disease and the mutations have to be known. 5T could be tested for if it were requested. However, since 5T is generally mild many IVF centers will not want to do testing for just a 5T. You would need to check with the IVF center you will be using. As far as how significant the 5T might be, it would be helpful to know the TG status as well, that I explained about in an earlier post.

Steve

 

[JazzysMom]

I just have to say that I am very impressed with Steves knowledge and responses..........I hope its a tremendous help to many, many people!