Welcome Ambry Genetics

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StevenKeiles

New member
Genetics testing

K,

There is nothing available for Lupus, for Celiac disease you can check <a target=_blank class=ftalternatingbarlinklarge href="http://www.kimballgenetics.com/
">http://www.kimballgenetics.com/
</a>
and for Sjogrens you can check <a target=_blank class=ftalternatingbarlinklarge href="http://www.genedx.com/
">http://www.genedx.com/
</a>
Best of luck,

Steve
 
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KayCee1234

New member
Genetics testing

Hi Steve,
Thanks so much for the information and I will check out these two sites. I was just hoping that they could isolate a gene responsible for Lupus or a combination of genes. Thank you so much for the two sites for me to check.

K
 
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jacket2230

New member
Hi Steve,

I received my results today for my 5 year old and still waiting on my 3 year old little boy. My five year old did have G576A on X12 and R668C on gene 13. My pediatrician said that it could mean they are CFTR deficient? could be a carrier? I'm so confused....If you have any explanation of what we are looking at please let me know. Thanks so much. Does this mean they have CF?

Thanks, Karen
 
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chloebeth

New member
Genetics testing

Hi Steve!

I am the sister to jacket2230. My son was tested for CF this summer. He received a 61 on his sweat test on his 13th bday. It has been a wild rollercoaster ride. We were told by our pulmonologist that by definition he had CF. He is symptom free. He had his first (ever) sinus infection early this summer. In the past 5 years this was his first sick doctor visit. We had our other kids tested and their sweat tests were normal. I had a genetic screening for the Delta F 508 and it came back that I was negative for those 32 mutations and was not a carrier for that particular strand. Jesse just got his ambry testing back. He had the amplified CFTR done. It showed no CF genes at all. THe ambry test stated that this result greatly reduced the likelihood that Jesse is affected with CF. The doctor requested another sweat test. He took that yesterday and got a 40 on it. WHY are the sweat test numbers so crazy different and does this mean Jesse may still have CF? Our pulmonologist is the LEAST helpful doctor I have ever been around. Instead of talking to us, he has his nurse call and fax our results and says I'll see you in 6 months. I'm just wondering what we are supposed to do next.

THank you so much!!!
Lynn
 
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StevenKeiles

New member
Genetics testing

Lynn,

I am not sure why sweat tests can vary so much, but the sweat test is just one test that is used for assessing whether or not a patient has CF. With a complete Ambry negative it does make it very unlikely that someone would have CF. However, like the sweat test, the genetics are also just one piece of information that is used for evaluation. Many pieces need to be put together to make a complete evaluation. My suggestion would be if you are not satisfied with the doctors that you have seen you could seek another opinion. However, first i would schedule an appt. with your doctor to review all of the results and discuss the possibilities of what to do next. Explain your concerns to the doctor and let them know you want to work together for what is best for the kids. I would imagine most doctors would be appreciative.

Best of luck,

Steve
 
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ralika

Guest
Genetics testing

Y301C i tested postive for this gene steve do you know anything else you can add about it thanks
 
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StevenKeiles

New member
Genetics testing

I have only seen this mutation occur by itself or linked to other disease causing mutations. Therefore based on this, I really cannot say if this is a disease causing mutation and if it is whether it would be considered a mild or more severe mutation. Sorry I could not help more than that.

steve
 
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ralika

Guest
thanks i am trying to find out anything i can would it be worth running the deletion test now? or any other to find the 2nd one
 
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boman4802

New member
Steve-
Hi! I have an 11 week old daughter who has been diagnosed with CF. She had 2 positive sweat tests and had the genetic test for the 97 genes. Her genetic test came back with one Delta F508 gene. The doctor doesn't think that we need to do further genetic testing as it won't effect her treatment and she said you can't tell severity. I was wondering what your opinion was on this and also what you can tell me about the Delta F508. I am new to all of this and just trying to learn and understand as much as I can. Thank you for your time.
Andrea
 
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StevenKeiles

New member
Andrea,

The CF foundation has recommended that all CF patients have their mutations analyzed. There is currently a drug undergoing testing that will only be for patients who have certain types of mutations. Therefore you would need to know what the other mutation is to determine if this drug would be useful. Now you could wait until the drug comes onto the market, but then you would first have to wait to go through the testing process.

I would agree that you can never predict the exact course CF will take, however there are mutations that tend to be more mild than others. So if you know the mutations it can be helpful to categorize someone within a range.

I would agree with your doctors take in theory, however I believe it is best to know the mutations so that you can also educate and inform the appropriate side of the family who may carry a mutation that would not be detected if they had a panel test. Therefore they could get tested and be negative on the test and think they are not a carrier but they may indeed carry a CF mutation.

Steve
 
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SandyCheeks

New member
Genetics testing

Steve,
Can you tell me what the difference between CF Amplified and CF full gene analysis with Poly T Status? My clinic has ordered the later and I am trying to ensure they are ordering the correct test. (there have been many errors with trying to get the test performed, so they faxed me a copy of the order sheet.

Thanks,
Sandy
 
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jacket2230

New member
Genetics testing

Hi Steve!

It's me again. We took your advice and met with our pulmonary specialist here. I have some questions for you about what he told us. In June he said Jesse had CF because of his two sweat chloride tests and his severe sinus infection that wasn't reacting quickly to antibiotics. Sweat tests were a 49 then a 61. We did all the breathing tests, weight, height, chest xray, etc. All things came back normal to above normal. We then did the Ambry amplified genetics test. It came back with no signs of CF anywhere. He ordered an additional sweat test. This time the score was 40. So, after meeting with our Doctor again, he said he was backtracking and said Jesse did not have CF. He said he just has weird sweat chloride. He wants to see us again in a year. My two nephews (Jesse's cousins)are both at least carriers of CF - we are waiting to see if they have it on 2 chromosomes or not. Is our doctor correct? I have been dealing with the fact we thought Jesse was very sick all summer, now I am afraid to relax about it. Could he really have some mutated form of CF that there is no test for? Is it possible that he just has wacky sweat chloride?

Thank you so much!
Lynn
 
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StevenKeiles

New member
Genetics testing

Sandy,

They both start out as the same test, the CF Amplified will also include deletion testing if necessary while the other test does not. Lets wait and see how the results come back, because if you order the Amplified, sometimes we cancel the deletion testing if we find the two mutations on the sequence part. And if we need to, the doctor can always order the deletion part after the fact.

good luck,

Steve
 
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StevenKeiles

New member
Genetics testing

Lynn,

Since the DNA results are just one part of the diagnosis, you have to look at everything. Obviously your doctor has all of that information and I would tend to agree with your doctor. I would also agree with all of your possibilities, it could be a variant form of CF that we cannot detect any mutations for, or he could have something else that just causes elevated sweats, My inclination is that it is probably more likely to be the latter just like your doctor suggested.

Sorry things aren't more clear.

best of luck,

Steve
 
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boman4802

New member
Steve-
Thank you for your response. I will talk to my doctor at Hadley's next visit about doing the full genetic test. She said that my insurance company wouldn't cover it and that it would be 2-3,000 dollars out of pocket. Is there any way that I can talk to my insurance and convince them to cover this?? Also, are there any specific effects from the df508 gene...or is it just random? Thank you!
Andrea
 
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StevenKeiles

New member
Andrea,

There are certainly some insurance plans that will not cover genetic testing, however my experience is that the majority of testing is covered by insurance. We bill insurance all the time and we can actually check on your coverage before you even do the test. Just call our office and give them your insurance information over the phone, or go to our website and print our insurance preverification form which you can find by clicking on resources and then ambry forms.

Steve
 
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