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momofcash

Guest
I was told that you may be able to tell me what stage my sons test is in. It has been six weeks since the test was ordered and we have had conflicting stories from the lab at the hospital and the geneticist who ordered. We just need a good approx of when we will know something.

Our son is Cash Lundberg. He was born 1-9-2006
His test was done at Milwaukee Childern's on 2/13/07

Thank you
 
S

StevenKeiles

New member
Kris,

I would need to know which mutation she carries in order to provide more information. I would recommend writing down all the questions you can think of so when you go in for your follow up with the genetic counselor they can all be answered.

Steve
 
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StevenKeiles

New member
Cash's Mom,

We received his blood on 3-21 and it is being tested right now. The results usually take about 3 weeks. It looks like his results should be done sooner than that.

I know the blood was drawn back in February, but I don't have any information as to why we didn't get it until last week. I would guess they ran some other tests first before they decided to send it to us for CF sequence analysis.

I hope that is helpful. For everyone else, just a reminder that our turnaround time is 2-4 weeks or less for most tests. It would be very unusual for results to go more than 5 or 6 weeks.

Steve
 
M

momofcash

Guest
Thank you. After receiving your message I spoke with Children's again and they said his sample was delayed at a lab they had sent it to before Ambry to have his DNA pulled out (?) I still do not have anyone to direct my frustration towards, but I am very glad to know that the end of this waiting is near. Thank you very much for checking for me.

Amy
 
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Edna0312

New member
Steve,

Just wanted to thank you again for the information you give. My son is going to have his blood drawn for the Amplified test today!! I am so excited and anxious, but very thankful for getting the right information from you to get the process started. I have waited 4 years for some answers, and I hope to get them now. Thank you again and God bless you.

Edna
 
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Edna0312

New member
Steve,

Tomorrow will be a week since my son had his blood drawn. It was sent via FedEx and I want to make sure you all received it.

His name is Jonathan Mark Huntsinger DOB: 05/12/05

Thank you,

Edna
 
S

sknoell

New member
I have a Ambry Genetics Sheet with my sons results on this CF Test. I find it completely confusing and our doctor is very little help other than to say, yes he has CF. There is a statement on there that says "The combination of these known deleterious mutations would be expected to cause Cf if these mutations are on different chromosomes, although the severity of the symptoms cannot be predicted. Family studies would be necessary to determine if these mutations are on different chromosomes." Can anyone tell me what that means? I keep asking the doctor and he just talks around it.
 
S

StevenKeiles

New member
sknoell,

Whenever there are two mutations, there is an assumption that this is the cause of CF and that is true most of the time. However, it is possible that someone could have two mutations on the same chromosome. Therefore we do not make assumptions when we find two mutations that could be on the same chromosome.

Obviously if someone has symptoms of CF and we find two mutations it is most likely the cause. But family studies would need to be done to be 100% sure. Many people just assume those mutation are on opposite chromosomes and don't bother doing additional testing.

If you want more information, feel free to contact me directly.

Steve
 
S

StevenKeiles

New member
sknoell,

Whenever there are two mutations, there is an assumption that this is the cause of CF and that is true most of the time. However, it is possible that someone could have two mutations on the same chromosome. Therefore we do not make assumptions when we find two mutations that could be on the same chromosome.

Obviously if someone has symptoms of CF and we find two mutations it is most likely the cause. But family studies would need to be done to be 100% sure. Many people just assume those mutation are on opposite chromosomes and don't bother doing additional testing.

If you want more information, feel free to contact me directly.

Steve
 
B

blindhearted

New member
Hi Steve. Just for my own knowledge, I had a CF test done at Duke to see what my mutations were. I've known about my CF since birth, so that wasnt a question. My question to you is, what does 'polyT allele genotype' mean?

My test results showed :
The CF allele genotype is: DELTA F508/G542X.

The polyT allele genotype is: 9T/9T

Thanks
 
C

Childressj

New member
Hey there Steve,
It is me again, .... My doctor's office called and spoke Ambry yesterday and said that they might have the results of the deletion test on Friday. Wow, it takes so long....I wondered why this test takes so much longer then the full test. It will be 3 weeks on Friday...should I be worried? I guess that I am not a patient person, sorry steve. JC
 
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StevenKeiles

New member
Danyell,

The poly T is a variant that is carried by everyone. You inherit two copies, one from each parent and they are either 5, 7, or 9. Each person can have any combination. The 5T is the only one that has clinical significance as it can act like a mild to moderate mutation. Most people have the 7 and or 9T. About 5% of the population does carry the 5T.



Jennifer,

It usually doesn't take that long for the deletion test. Some times samples have to run multiple times to get results so in those cases it takes longer.

I know waiting is the hardest.

Steve
 
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Edna0312

New member
Steve,

Hi it's me. :) Can you please let me know when my son Jonathan's blood sample shows up there. It was sent via DHL instead of Fedex.

Sorry to be such a pest, just want to make sure I'm doing everything on my end to follow through with this and see to it that it gets done.

Thanks so much,

Edna Huntsinger
 
L

LRL

New member
Hi Steve,
I was wondering if you know anything about PGD testing centers. My husband has CF (Delta F508 and N1303K) and testing indicates that I have 5T. Anyway, after being in contact with you, about a month ago I went and had blood work done to determine the number of TG repeats. These results were sent to Ambry, but we have yet to receive these results. Anyway, as I am <u>anxiously</u> waiting, I had asked the genetic counselor to look for a lab willing to do PGD. He has told me that the place he uses will not do PGD in our situation, regardless of the number of TG repeats. I am significantly concerned, as I might want PGD regardless of the number of repeats being 10 or 13 repeats (we are really unsure at this time as there is still no clear prediction of what our child will have should I have 10 repeats or 13 repeats). Regardless, I was wondering if you knew of any place that does PGD in a 5T/CF gene possible scenario.
Thank you for all of your help
 
S

StevenKeiles

New member
Edna,

We received his blood, all is fine.

LRL,

I don't know what the PGD centers are willing to do you would have to speak with them directly. I would suggest waiting until we have results and then we can go from there. There are not that many centers that do PGD so it won't take too many phone calls to find out.

I am leaving for Chicago in the morning to give some talks, so I may not be able to check email for several days. So if someone has questions, please be patient I will get to them by Monday the latest.

thanks,

Steve
 
T

tizzy

New member
The Cf center sent my sons blood samples to Genzyme. How is their testing different than Ambrys? Should I be concerned that it will not be accurate?
Thanks,
Tizzy
 
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StevenKeiles

New member
Tizzy,

First it depends on what the results say. Let me know what the results are when they come in and we can make an assessment based on that. What CF center did you go to?

Steve
 
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