Genetic testing for mutations

julie

New member
There have been a lot of families on this site, including myself, who have talked about/recommended or utilized AMBRY GENETICS for Cystic Fibrosis carrier or diagnostic testing. I recently learned that QUEST DIAGNOSTICS also has a CF mutation carrier/diagnostic test available. I have recommended amybr genetics on my website <a target=new class=ftalternatingbarlinklarge href="http://www.cysticfibrosismaleinfertility.com">www.cysticfibrosismaleinfertility.com</a>, but I am about to update that information.

I know some people have had difficulties getting insurance to cover AMBRY GENETICS' test, therefore I thought some families/individuals might be interested in this information. I specifically inquired with QUEST DIAGNOSTICS about how their test was comprable/different to AMBRY GENETICS test. The director of the gentic's department answered my question below:


<i>The Medical Director of the Genetic Testing Center at Quest Diagnostics
Nichols Institute was able to respond back to your inquiry regarding testing for
Cystic Fibrosis Carrier/Diagnostic testing.

He responded back by stating "the ambry test is called gene scanning and is a
crude way of scanning the entire gene for the presence of any mutation. Once a
potential fragment has been determined to have a potential mutation, that
fragment is sequenced. Ambry calls their test a "sequence based test" but it is
not a DNA sequencing test."

"Quest Diagnostics offers CF Complete which is a complete sequencing of the
entire CF gene. Coupled with our new deletion CF test, we would detect >99% of
all CF mutations."

Thank you once again for contacting Quest Diagnostics.

Sincerely,
Iris Underwood
Branch Operations Manager
Quest Diagnostics San Diego
Tel: 619-686-3053
Fax: 619-686-3362
e-mail: Iris.J.Underwood@questdiagnostics.com
</i>

I have had my test done through AMBRY GENETICS, but if I had it to do over again, I would have gone with QUEST DIAGNOSTICS. My doctor and the laboratory at my hospital knows who/what they are and how my insurance will work with them. It took me a few months to fight to get coverage and approval for the AMBRY GENETICS test. If there are others in the same boat, who can't afford to wait as I did (mine was just a carrier test on myself, not a CF diagnostic test), this might prove to be a good route.
 

JennifersHope

New member
Hi Julie,

Thanks for the information. You are always so helpful to all of us. Hope you and Mark are doing good.

Jennifer
32 w. CF and Addison's
 

julie

New member
Your welcome, I wish I knew about Quest's Test because i could have saved myself a huge headache!
 

imondeck

New member
Just wondering if anyone has had the Ambry test with no known mutations found and then had the Quest done with mutations found?
 

julie

New member
No problem. As for the last poster about ambry first and then quest... I have not heard of any "stories" yet,but I too am curious with the same question you posted. I guess we'll wait and see.
 

abloedel

New member
Hi Julie...just wanted to let you know that I heard back from my clinic...they currently use Quest for the standard panel, but not the extended....so, we're going to try it on me! So far it's sounding good that my insurance would pay for it through Quest (they have some sort of contract with them), but waiting for confirmation before I give a blood sample.

So...if my insurance pays, you'll have a "story" when I'm done.

Thanks again for the info...sorry I missed it the 1st time around!

Amy

36 w/CF
 

imondeck

New member
Amy, if you don't mind me asking, have you already had Ambry do a test? What was your sweat test results? Thanks.
 

abloedel

New member
I haven't had the Ambry test because my insurance won't cover that one becuase they consider Ambry to be "out-of-network". But apparently Quest is "in-network".

My two sweat tests were 108 and 111. The standard panel showed I have one DF508, but I don't know what my other CF mutation is. If my insurance covers this one, I will have my daughter tested too. Her sweat test was 35. She doesn't exhibit symptoms of CF, but it would be nice for her to have that since at a minimum she's a carrier.

My sister did have the Ambry test, but it showed no CF mutations; her sweat test was 45 (in the borderline range), so I might talk to her to see if her insurance would cover the same test at Quest. She DOES exhibit symptoms so it sure would be interesting....

Amy

36 w/CF
 

julie

New member
Amy, something I saw in CF roundtable today (Autumn 2005) on page 33:

"Cystic Fibrosis Twin and Sibling Genetic Modifier Study.

This reesarch is beind one to find the genes and other factors that re responsible for variation among persons with CF. We are interested in twins and siblings because they share similar genes and a similar environment. We want to know why twins and cibiings with the same CFTR mutations have very different diseases..... Participation in this study is on a stricly volunteer basis. Patients will not be compensated for their participation. If youand your sibling would like to participate, feel free to contact us at 1-866-245-8065 and visit our website at <a target=new class=ftalternatingbarlinklarge href="http://www.hopkinsmedicine.org/cftwinstudy/">http://www.hopkinsmedicine.org/cftwinstudy/</a> "

Depending on what your sisters Quest test shows (if she does indeed have it) this might be interesing for you guys.

Good luck with it!
 
I've been reading these posts and trying to understand the mutations. I have a friend I went to highschool with that works for Quest Diagnostics and I wrote him a quick email to ask him for some information. He's a bio chemist. I'm so confused about this...and very curious. If I hear anything interesting back from him, I'll let you know.

~*~*~HUGS~*~*~*
 

Faust

New member
Wouldn't it be great if our mutations gave us actual X-men like super powers? I think i'd like to be a villain. Villains are by far the coolest <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

JazzysMom

New member
Powers.........my daughter would be using me like a robot if that was possible. Its bad enough that she wants them for herself. I couldnt imagine her MOM having any. LOL
 

abloedel

New member
Hey everyone (especially Julie)...

My insurance covers the Quest test at 100%. Went in yesterday to give my blood :), so hopefuly it won't take too long to get any results...although since "no one had even heard of this particular test" yesterday, they couldn't tell me how long it would take....

Once I get my results, I'll do a new post...

As some of you know, I have a DF508 mutation, but don't know what my other mutation is.

Hopefully, this test will identify it.
 

julie

New member
Sounds good, I can't wait to hear the results and see how long it takes too. There is one other person on this site who did a quest test too, I believe it took about 4 weeks but with th holidays-I can imagine it would possibly take a bit longer.

Can't wait for your results!
 
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