Welcome Ambry Genetics

Buckeye

New member
Genetics testing

My son has had three sweat tests (five if you count the ones when
he didn't sweat enough) and all three have come back positive - 69,
94, 76. At that point we were told he had CF (by his Gastro
doc). Now we just got the results of his initial genetics
test back and he doesn't have any of the 97 most common mutations.
I was sort of expecting him to have at least one of those
more common mutations if not both. My questions is how many
of you have two uncommon mutations vs one common and one uncommon
or both common? I know they are going to want to do the more
extensive genetics testing when we go to our appointment on
Tuesday, but it is sort of driving me nuts that we're going to have
to wait months now for this other test result. BTW he has had
a chest xray, sinus CT, elastace test and throat swab when we saw
the clinic last month and all those came out fine.

Another question that I'm not sure any of you are going to have
experience with is that my son has cerebral palsy (born 10 weeks
premature) and the doctor at the clinic said that for some reason
unknown to them a child with multiple health issues can test false
positive on the sweat test. Anyone heard of this? I did
look up the reasons why someone can get a positive sweat test and
not have CF, but none of those apply to him. I keep seeing
that two positive sweats mean CF period end of story. Any
insight would be appreciated.
 

amber682

New member
Genetics testing

My son has one common (Delta F508) actually most common,
and one uncommon but still unknown (we need further genetic testing)
 

NoExcuses

New member
Genetics testing

i've heard of several people who have two rare mutations.

i would push for genetic testing for less common mutations.
 
M

Mommafirst

Guest
Genetics testing

My daughter has two rare genes. One is tested in the main
panel (W1282X) but still only accounts for less than 1% (differs in
different countries) of CF patients. Here other gene is soooo
very rare that we can only find one case study of a patient with
the gene.


Although it is rare to have two uncommon genes, its certainly not
unheard of. I hope you get some answers. I know the
whole testing is mind numbing and long and drawn out! The good news
is he is showing to be pancreatic sufficient and no culturing
anything or having respiratory problems. This means that is he does
have CF that all the great preventative treatments will be able to
be started early!!
 

Alyssa

New member
Genetics testing

My kids mutations are pretty common, but they do have two of them and they do have A-typical, mild variant CF -- (read my blog for more details)

Now, if a doctor was to look at:
sweat tests
chest x-ray
sinus CT
elastase test
throat swab

They would all look normal in my kids too. (yes, all of these have been done)

But, yes, I'd have to say it's not a guarantee that you son has CF, but they tested for 97 genes, and there are 1400, so chances are with the positive sweat test and that many unchecked genes and mild symptoms (I'm assuming the GI doc suspected CF for some sort of reason) it is not outside the realm of possibility that he does in fact have CF.

Having said that -- there was another post not long ago, that someone posted some really good information about when a person can get a false positive on a sweat test -- you might try searching the archives here.

Best wishes -- keep us posted on what happens.
 

StevenKeiles

New member
Genetics testing

Buckeye,

Just to let you know, those are not the 97 most common mutations, they are just 97 mutations that happen to be on that panel. There is only one common mutation and all the rest are rare. There are a few mutations that occur more frequently but 99% of all mutation occur with a frequency of less than .1%.

Yes that is correct <.1%

So your situation is actually not that unusual.

Steve
 

Buckeye

New member
Genetics testing

Thanks everyone for all the information. We have another
appointment at the clinic tomorrow so I will insist on the more
complete genetic testing.

Steve, thanks for the information on that genetics panel.
Very interesting. How long does it really take to
get the results of the Ambry test back? I know they have to
look at a huge amount of info and that's why it takes so long, but
is it really months?
 

StevenKeiles

New member
Genetics testing

Our test has never taken months to get results. The typical turnaround time is 2-4 weeks with most samples averaging on the shorter end of that time.

Good luck at the clinic tomorrow.

Steve
 

anonymous

New member
Genetics testing

Steve, I was just wondering if it's a very common occurrence that people test completely negative on Genzyme's panel but then find two genes on your panel?? We're another family in limbo...
 

anonymous

New member
Genetics testing

Our insurance won't pay for Ambry's test. Just wondering approx how expensive it is in case we can come up with the $$ ourselves. Thanks.
 

StevenKeiles

New member
Genetics testing

I have seen quite a lot of cases that were negative on Genzyme or some other panel and we have found two mutations. So it happens a lot, of course we also have patients that are negative on some other test and negative on our test as well.

Regarding insurance and cost, I would recommend that anyone who has questions or issues should contact our office directly so we can see how best to help. If someone truly does not have coverage for testing with us, we can usually work something out on a case by case basis.

You can call our toll free number and ask for Tracey. 866-262-7943.

Steve
 

anonymous

New member
Steven (Ambry)

Just curious how Ambry's testing is different from the testing Quest does. From what I understand, it used to be that if you had a very rare mutation (considered unknown by the old Ambry test) that Quest was the only way to find the mutation...is that what the new Ambry test does?

Thanks!
 

anonymous

New member
Steven (Ambry)

Actually you have it the other way around. Ambry's been around for quite a while. Until recently, Quest only had a limited panel. As far as the difference between the tests, they do test differently so I guess, theoretically, it's possible for someone to get missed on one but not the other (just guessing on that.) I'll leave that up to the pro I really like that Ambry has a rep reading and posting
 

StevenKeiles

New member
Steven (Ambry)

Thanks, The test that we have been doing at Ambry is basically the same test for the last few years. That is a comprehensive sequence analysis that can pick up over 1400 (this number keeps getting bigger as we find more mutations) mutations. A total of 97% detection of all mutations.

The new Ambry test that you are referring to probably related to the addition of our deletion/duplication test. This test detects large deletions or duplications in the gene that cannot be detected by any sequence type test. These mutations account for about 2% of all CF mutations. Therefore when you combine the two you have 99% detection and the name for this test is The Ambry Test: CF Amplified. That is our "new" most comprehensive test.

As far as missing mutations, there is no test that is 100% accurate so any lab could potentially miss a mutation. However taking away errors, any mutation should be detected the same on both The Ambry test or any other lab sequencing test. However if a lab is just looking for a panel of mutations, then yes they would miss all other mutations.

I hope that clears it up, and I am glad that you appreciate my presence. My main goal is that people get accurate information to be able to make informed decisions to do what is best for themselves and their family.

Steve
 

amber682

New member
Steven (Ambry)

Thanks for this info! My son had genetic testing done almost a year ago to see what his other mutation is (one is Delta F508). I never thought to ask what type of test it was, but it didn't pick up the mutation. I'm trying to get my son's new dr. to get this type of test done, and I like to be armed with the correct info.
 

Buckeye

New member
Genetics testing

Our clinic appointment went very well and the docs brought up doing
the Ambry test before I even got to mentioned it. So I
didn't have to do any arm twisting at all. And they said the
same thing Steve from Ambry said in that it only takes from 2-4
weeks to get the results back. Yeah!

Pam
 

kandi

New member
My son tested postivie for the delta f508. This was right after his diagnosis. We were told the other one was unknown. Should we push the doctors to find out what the other gene is or does it really matter. Please let me know.
 

anonymous

New member
Steven (Ambry)

Hi
sorry to butt in , but is it possible to use Ambry testing evan if you are in England?????

thanks

Ziffy
 

amber682

New member
Steven (Ambry)

Kandi, seems we're in the same boat! (One Delta F508, one unknown) I am pushing for the Ambry:CF Amplified. Mainly because there may be some correlation between class of mutation and severity of disease. I've also read that when there are two different mutations, the Cf is usually as severe as the milder class mutation. Plus, I'm just really curious. We'd also like to know because then other relatives on my hubby's side could find out if they were carriers much easier, they'd know what mutation to look for. Helpful when they want to have kids themselves. If you can get insurance to cover it, why not?
 
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