Welcome Ambry Genetics

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NAVCHAPDOC

New member
Steven,(also sent this in OM to you Steven, sorry for the repost) thank you in advance. I have recently joined this site and found a lot of helpful info. When I found you in here I think I may have hit gold. Long, long story short is, my 2 year old daughter has had 2 cases of pancreatitis in the last 3 months. No other health issues other than wet/foul stool (no visible fat or mucus) anyway, the GI specialist seems to think it was/is viral in nature. Sweat tests were done and voided because she did not sweat enough. CMP and CBC were WNL. Stool studies are pending (fecal fat 72 hr ect..) I read a post from you stating that the mutation L997F was a mild mutation that often presents as pancreatitis. She was given the CF carrier test by Quest Diagnostics and it was all negative. I was told they only screen for 30 something mutations. The GI specialist said he has never heard of the Ambry test and always uses the screening test he ordered for my daughter. I have Blue Cross Blue Shield federal as my insurance carrier. Do you know if they will pay for another genetic test such as yours, specifically the one that screens for L997F?? Any help you can give would be greatly appreciated.

Thanks,
John
 
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JennifersHope

New member
I have gone through every single post on here..Not one person has a mutation that even starts with a Q

Steve..Please be my life saver... COuld you please share what you know about Q1330E that was the second thing that came up with me I have Df508 and that...

I have no information about that gene, I can't find it anywhere.. Is it a normal varient? I so want to think it is ..but I don't know...I saw it come up as a NBD2 but I don't know what that means..

Please put me out of my misery

Thank you
 
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candi81

New member
Steve, my son was disgnosed almost a year ago and so far is doing very well. During the course of the past year I've been trying to find ANY information that I can about one of his mutations (c.2789+2_+3insA) with no luck. I was only told by his doctor that it was rare. Can you tell me anything at all about this mutation?
 
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StevenKeiles

New member
Andrew,

all mutations are variable, the mutation class does not predict anything. Each child has to be evaluated as an individual and not based on the mutations they have.

best of luck,

steve
 
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JennifersHope

New member
Please do not shoot me just yet Steve... I was just wondering if you had anything you could add.

I know you said that the Q1330e mutation was rare, but that two mutations equal CF.. Iget that.

As we have researched we found that the mutation defaults in the NBD2... There is a lot of research on NBD1 Cf genes but not so many on NBD2 other then we know it helps with gating, though NBD1 is mostly responsible for opening the gate, NBD2 shuts the gate along with opening it.

Do you know any other genes that are also NBD2 domain genes?

I am just trying to put things together and you are so helpful..

Thank you so much
Jennifer
 
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jmom

New member
Steven (Ambry)

Steven -
You may not remember me, but we spoke briefly on the phone when my insurance denied authorization of your test for my daughter. They denied in less than 24 hours without ever waiting for her GI doc's cover letter of medical necessity or her pertinent medical records. Orbelin and your company filed an appeal on our behalf, and just today, insurance changed their mind and will cover the test for us. I wanted to thank your company for working on this for my daughter. This meant a lot to us (as you can imagine)!
 
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mom2maxandcharlie

New member
Hi Steve,

How much exactly of the CFTR gene is unable to be analyzed? Is it possible to have CF and not have any mutations? I know there are unknown mutations. Does a CFTR Related Metabolic Syndrome Diagnosis require atleast 1 known mutation?

Thanks
 
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syddesi2

New member
Hello

My son is 7 years old and has had two sweat tests both normal - he lives with very thick mucus causing airway obstruction since two weeks old. He has had bronchoscopies, bronchial lavage (unable to get mucus out too thick) also has pansinusitis.

He had a blood test (two years ago) by Genzyme and it is NORMAL! It says Poly T:7T and 7T
125G>C benign, 2694T>G, benign, 4521G>A benign

The doctor has biopsied his lung cilia as well as nasal cilia and he has been tested for TE Fistula twice.

The doctor just started him on Pulmozyme and ordered a CF vest as well as referred him to the local CF Clinic.

My questions are do benign variants have any significance and do you think he should have the Ambry test done?

Amy
 
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StevenKeiles

New member
Dear Max and Charlies Mom,

The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF.

So this is a diagnosis around newborn screening. It is possible to have CF and not have any mutations identified, but that is unusual.

Amy,

Those variants are of no significance. You say the sweats are normal, but how normal. Our test is more comprehensive than the Genzyme test but I don't know the chances we would find something that they did not. If the sweat tests were positive then I would definitely say to repeat with ours. In your case it would be up to the doctor.

Steve
 
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syddesi2

New member
The sweat tests are low - not borderline at all.
What does no significance mean? Does that mean these changes are "normal"? Or does it mean that no one knows.
 
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mom2maxandcharlie

New member
Hi Steve. Sorry to bother you again but I was made aware of this journal article, "Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease," and wanted to know if the Ambry Amplified tests this area. If not, how would someone go about getting testing?


Thanks,

Melissa
 
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traxster

New member
Steven,

My son is 7, and last week, we got the result for the first test done by Ambry where he came back with some mutation called 5t. I'm confused as to whether that is in fact, a CF mutation. My pulmonologist (she is out of UNC-CH) sent in blood for the amplified test that tests against all known mutations. She says that if a mutation comes back from that test, he will get a clinical diagnosis of CF. My questions is, would that mean that although he would only have one CF mutation, he could still be diagnosed with CF? And would that mean that he is technical just a carrier of the CF gene?
 
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traxster

New member
Hi! Thank you for your sponsorship. I do have a question. My son is an black male, age 7. He has had a history of alot of issues, and finally we were referred to UNC for testing. He had a normal sweat test, not even borderline. When he cultured Pseudomonas, our pulmonologist went for further testing through Ambry. It came back showing a 5T variant. So, now we are waiting for the CF Amplified results. My question is...all the literature says that a person has to have two copies of the recessive gene, one from each parent, to have CF. So, if the test comes back and he only has one mutation, does that mean he has CF or that he is a just carrier, even if he gets a clinical diagnosis of CF given his symptoms?
 
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jmom

New member
I've been reading your posts and just wanted to say "Hi" because you and I are both waiting on the Ambry Amplified genetic test right now. My daughter's blood was sent off on Sep. 28. When was your son's test sent? I was told by the lab that results come in anywhere from 4 - 12 weeks later. Can they give us a little smaller window of time???! If it's going to take 12 weeks, I'd rather not have thought it could come back in 4. Anyway, not complaining, but I'm sure you would agree...waiting is hard. Best wishes to you and your son's health!
 
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traxster

New member
Hi! My son's blood went off on October 6. And I called Ambry myself and they had just received the sample last week, so that was discouraging. I was told that it would take up to 35 days. The first test that was done only took about two weeks, but I assume that is because it was the smaller panel. He is getting the Amplified testing so its a bit more involved.

Yes, the waiting is hard! How old is your daughter?
 
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StevenKeiles

New member
I would have to look at that article to be able to answer the question.

There is no test that is 100% so even if we find only one mutation it could still be cf but it is most likely just a carrier. It really depends on the clinical history that is why the doctor needs to take everything into account.


Most results take 3-4 weeks. Some can be ready sooner and some take a little longer.

Steve
 
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