Welcome Ambry Genetics

[StevenKeiles]

Aria,

It is not a stop mutation, it is a frameshift mutation. I am not sure what class it is.
Only mutations that end in X are stop or nonsense mutations. Frameshift mutations do often results in a premature stop codon further done the gene. however these type of stop mutations would be benefit from the PTC124 drug, only the mutations that end in X can use that drug. And that drug is still a little ways from coming to market. They are just completing phase 2 trials, then comes phase 3, then if all goes well FDA approval. So not likely before 2009.

Steve

 

[heatherrose415]

Hi steve, my son got his ambry genetics test back. we have yet to talk to the dr. we have only talked to a nurse who said no genes were found, but the 7T/7T poly T variants were found. What does this mean? He is pancreatic insufficient. We might not hear from the Dr. today and are very worried.

Thanks,
Heather

son: Kaiden Wright

 

[mom2lillian]

who do I call to find out the status of my daughters CF Amplified panel?

 

[hopesiris]

Hi Steve,

My husband has one copy of Delta F508 and I have atypical CF- Delta F508 and T5/TG12. Do you know if it is possible to do PGD/IVF and detect both the double Delta F508 embryos and the Delta F508 + T5/TG12 embryos? We wouldn't want to use either. Also, can Ambry detect the T5/TG12 from a prenatal CVS sample? Does doing that increase the length of time it takes to get the results?

Thank you,
Bonnie

 

[peanut07]

Hi,

Perhaps you can help me. Our insurance has denied Ambry Genetic Testing for my son, however they will cover Quest diagnositcs testing. I looked up on the Quest site and they too offer a complete rare mutation analysis, entire gene sequence and a CFTR gene duplication or deletion test. My husband and I have already been negative on the CF Screen. This seems comparable to what you offer. Unfortunately the CF doctor has told me that Quest's test in not good and they will not value the results of it. I understand that Ambry is the best as far CF testing goes but can I feel confident at all with Quest Diagnotics doing the work up. He is 5 1/2, no symptoms. This came ahead after a routine blood workup showed low blood protein, believed to be malabsorbtion, then a positive sweat test. We have never experienced any health problems or concerns with my son.

Thank you for all your help.

Sandy

 

[mom2lillian]

Sandy-just to mention to you my insurance also told me Ambry out netowrk so not coverd BUT if I get lab drawn at an in network hospital and it has to be sent out of network to be tested then it WILL be covered. It took ALOT of time on the phone but there might be aloophole such as this for you.

 

[Edna0312]

Steve,

Could you let me know the status of my son's test? This is the fourth week. Sorry, I really am trying to be patient.

Thanks

Edna
mom to Jonathan Huntsinger DOB: 05/12/05

 

[StevenKeiles]

Edna,

The results were faxed out at the end of last week.



Sandy,

If Quest does a sequence test and deletion testing, then it should be just as reliable as our testing. It may take a longer time for their results, but the results should be just as good.

Steve

 

[heatherrose415]

Steve, did you get my question about the 7T/7T poly T variants that showed up on my sons genetics test?? what does it mean??
He was tested because of borderline sweat test and pancreatic insufficiency. No genes were found

Thanks!
-Heather

 

[StevenKeiles]

Heather,

Everybody has a certain number of T's, called the poly T variant. Most people have 7 or 9 and some people have 5. The most common is 7/7, this is considered normal.


Nicole,

You can call the office to get a status report on any ongoing testing. Contact numbers are below.

Steve

 

[StevenKeiles]

Bonnie,

Regarding what can be detected doing PGD, you really need to speak with the actually clinic that will be doing the testing to see what they can and will do. I believe that the 5T is not something they would normally test for, but each clinic makes their own decisions.

Yes we can detect both the 5T and deltaF508 prenatally from a CVS or an amniocentesis.

Steve

 

[LRL]

Hi Bonnie-
I wanted to let you know that my husband has CF and I have 5T-TG 12. We are doing PGD and have found a lab that will do it through sequencing . Just wanted to let you know it is possible

 

[jleigh5570]

Hi Bonnie,

Could you email me privately @ jleighnelson@hotmail.com ? Thanks....

 

[hopesiris]

Thank you so much for letting me know! Whew, I was worried about how we'd deal with this.

 

[hopesiris]

jleigh5570:

There is nothing on this site or in your message indicating who you are or what you would like to discuss. Feel free to send me a private message through this site if you'd like to reach me. Thanks.

 

[Edna0312]

Steve,

Thank you so much for your helpfulness and quick responses. I have contacted the clinic, and the doctor's assistant is looking for the results.

I'm sure I may have questions once I get the results, so bear with me.

Thank you again for all your help.

Edna

 

[clawson5104]

hi steve,,,,,,,,,,,,,,,
it's me again...lol. i posted previously about my 22mos. old son Wade dob 6/26/05. i received the results.....dont get it though. the pulmonologist says definitely a carrier with symptoms and he will be treated as if he has cf. just wondering if u have any further info the tests read as::::::

KNOWN MUTATIONS: R117H
NOVEL VARIANTS: NONE DETECTED
TG REPEAT/POLY T VARIANT: (TG)11-5T/(TG)10-7T
GROSS DELETIONS/DUPLICATIONS: NONE DETECTED

it does mention that the mutation is a mild one. but if u have any input, for better understanding i would greatly appreciate it. i thought after the test came back, it would be clear wether he has it or not. does this mean he has one mutation and another unknown? or does it mean he is only a carrier with symptoms anyways......i donno. sooo thanks again.

carrie

 

[StevenKeiles]

Carrie,

Those results are the R117H mutation and the 5T/11TG variant. The 5T acts like a mild mutation. Therefore if the R117H and 5T are on opposite chromosomes, they could both be significant. The other possibility is that the 5T is on the same chromosome as the R117H mutation and in this case is makes the R117H a more significant mutation.

I hope that helps.

Steve

 

[peanut07]

Thank you Steve for you answers. I am going to get the Quest done as soon as possible and then we will go from there. We are of Ashkenazi decent, are there any things that they could look or test for that would relate specifically to our ethnicity? I know when I was screened this information was requested.

Thank you,
Sandy

 

[StevenKeiles]

Sandy,

The Ashkenazi population has about 6 mutations that make up about 96% of CF causing mutations. Other than those the rest are all very rare. If they do the 23 mutation panel, you get about 96%, if you do the sequencing it goes up to 97-98% and if you add deletions it goes up to 99%.

For all other ethnic backgrounds the mutation panel is much less accurate.

Steve