what is the CFTR mutation of this gene test?

[1989]

<pre> MOLECULAR GENETICScystic fibrosis-study of the main CFTR gene mutationPCR-OLA kit de diagnostic v3 Genotyping assay (Celera
Diagnostic/ABBOTT)symple type: Whole bloodmutation were tested:G85E,394delTT,R117H,621+1G->T,711+1G->T,1078delT, R334W,R347H,R347P,A455E,l507del,F508del,V520F,1717-1G->A,G542X,S549R,S549N,G551D,R553X,R560T,1898+1G->A,2183AA->G,2184delA,2789+5G->A,3120+1G->A,R1162X,3659delC,3849+10kbC->T,3876delA,3905insT,W1282X,N1303kpolymorphismes(5T-7T-9T)resultatient has screened NEGATIVE for all the above mutations.polymorphism study (5T-7T-9T):7Twe would like to remind you that thease result can only be
transmitted to the patient by the prescribing physician,who is
the only pearson authorised to communicate them in conformance
with the decree n^2008-321 of 4th april 2008 articale R.1131-
19.This general measure is obligatoty for this type of exam
and is no way related to the reasult.</pre>

 

[JustDucky]

It looks like they only screened for the most common mutations (30) and not the entire panel of known mutations (which is 1600+).. They also looked at the polymorphism repeats, it looks like it is 7t. It is significant if it is a 5T (at least that is what I understand, someone correct me if I am wrong). According to this panel, no mutations were found, but like I said, it only screened for 30 of them.

Hope this helps

Jenn 40 wCF

 

[Printer]

This is a study of the main (250) cf mutations and you tested negative for all of them. There are almost 2000 CF MUTATIONS. That means that there are an additional 1750 that you were NOT TESTED FOR.

You need to have a FULL CF SEQUENCING.

 

[Printer]

OOPS not even 250.

 

[1989]

why they searched only that few mutations and not all known mutations
what can i do for searching all known mutations?
what should i tell my doctor to do?

 

[Printer]

You need to see a CF Specialist at an APPROVED CF CENTER. What major city do you live near?

Bill

 

[1989]

Im living outside the state
Do you know name trust able genetic lab which search for the entire panel of known mutations?

 

[Printer]

If you go to an APPROVED CF CENTER AND SEE A CF SPECIALIST, he/she will take care of everything.

Bill

 

[JustDucky]

Ambry takes blood samples from around the world from what I understand. I would ask your doctor for a full sequencing with deletions of all known CF mutations (1600+ mutations exist) If you aren't seeing a CF specialist, you should as they will direct you better and take care of the testing . I will throw this out there though, my primary doc actually ordered the full Ambry sequencing for me, not a CF center, I saw them later. She just wanted to get a jump on things....I guess what I am saying, is any doctor can order the full testing but it is easier to get this accomplished if you are going to a CF center because this is something they do all of the time.
Here is a helpful link to Ambry, describing the various levels of testing of the CFTR gene, the most comprehensive being the CF amplified testing http://www.ambrygen.com/tests/508-first-cf-amplified

Hope this helps!

Jenn 40 wCF

 

[1989]

Thanks all for your reply

 

[LittleLab4CF]

1989, In the 'for what it's worth' department, I am surprised this test was chosen. Since you asked for clarification in this forum, you likely were suspicious of the test as well. Few things are worse than to be sick and not being diagnosed. A similar mutation panel was available about 15 years ago and is very limited as many have noted. Full CFTR (cystic fibrosis transmembrane regulator) gene mutation analysis is comprehensive to the extent that all known mutations can be identified. Depending on insurance or lack of, you may experience sticker shock as the Ambry Genetics top test noted by JustDucky is expensive. However the test you had in my opinion is a wasted effort. Whether the comprehensive yields positive or not, a qualified CF specialist or CF center is available outside the U.S.Africa m and is going to be needed to understand the ramifications of your test. Printer is spot on and a search for a qualified CF center or at a minimum, a CF specialist is so important, Printer posted it twice. I would add that seeing a qualified Genetic Counselor especially familiar with CF could explain the variabilities in CF presentation. You don't mention where in the world you are? Deepest dark Africa or India may require traveling to a city to find a proper facility. Many who read these posts are not living in America and some where CF is rare. Letting us know your location may save you time.

 

[LittleLab4CF]

I did not pay attention to your initial question, in the title of this topic. Your question could be interpreted two ways. "What is the CFTR mutation in this gene test." The CFTR gene in working order is the absence of cystic fibrosis (CF). At the initial discovery of the CFTR gene mutation being the cause of CF, it was quickly discovered that many different errors within the gene existed and many resulted in CF including DNA sequence errors, deletions and additions such as repeated copies which your 7T polymorphism where a DNA helical building block (A,G,C,and T, (Thymine) is repeated in the DNA making up the gene.

Errors in the gene supposedly don't matter as long as the other chromosome has a normal CFTR gene. Both chromosomes must carry the same gene defect to fully present CF. There is a growing cloud of luck, lifestyle, and the growing list of mutation discoveries that seem to be found faster than they can be qualitatively analyzed. The end result of CF is malfuntions in absorption and release of salt, thickening body mucous from the skin possibly to any or all internal mucous membranes with salt.

The alternate interpretation of your question is more to reading the report. Starting with G85E on is a list of common CFTR mutations which has been pointed out to be short potentially a factor 10 compared to the now known mutation list. G551D has been central to a lot of attention even mainstram Media. There is some logic to the numbering of each of the roughly 2000 known mutations but suffice it to say the suggested Ambry amplified test essentially tests for all known CFTR gene mutations. How the mutations differ is for the most part the presence of the same mutation(s) inherited from both parents, presented on both chromosomes. Although some mutations are known to possibly be worse than others, without a well informed CF specialist to interpret your genetic test, this lifelong disease has merit because genetically based medicine for G551D has shown to improve the lives of some CFers a statistically significant degree. For those with just G551D this new medicine can produce marked improvement but to illustrate the need to establish a relationship with a CF center or CF specialist, if you are ultimately confirmed to have a CFTR mutation, you want to be in the que when your mutation has been addressed.

 

[1989]

Thanks for the clarification littlelab4cf,
i want to ask you guys do johns hopkins hospital make cftr gen test for the entire panel of known mutations?
because there's hospital in may area which in affiliation with johns hopkins medicine