DNA could not extracted from blood samples

[Kamal D Shah]

I had sent my blood samples to the Mario Negri Institute in Bergamo, Italy for genetic testing. They could do only the ADAMTS13 gene and for the rest of the tests, they got back saying that the DNA could not be extracted!

I have no idea why. I am really disappointed because I sent the samples in March this year and have been waiting anxiously for the results. The results would have helped me decide about a second transplant (first transplant Nov 1998 - HUS recurrence). A lot of other things in my life were also on hold because I was waiting for the test results. Dialysis does limit a lot of things you can do.

I am at a loss now. they have asked if I can send DNA samples to them. I need to check if someone in my city here can extract DNA samples. To send the blood samples itself, I had to run around so much and spend a lot of money to make sure the samples were sent frozen (-20 to -80 degrees Centigrade). All to no avail. Now I will have to start all over again.

I had got my blood tested a few years back at Newcastle upon Tyne (Dr. Tim Goodship). The tests had come back negative for Factor H, Factor I and MCP. I wonder if anything significant will come out from the remaining tests? What I mean is - in deciding about a transplant, will the decision change significantly by the results of the remaining tests? I must find out about this. I would appreciate it if someone could point me in the right direction.

[Kamal D Shah]

Thanks Jaime for your comment and wishes. Yes, I did contact Dr. Smith. I have actually got the DNA samples yesterday and they should be on their way to Italy soon.

[Jaime Sheeder]

Hello Kamal,

I am sorry to hear of all the troubles you have been dealing with. It certainly does not help matters any. Have you reached out to the doctor at the University of Iowa? They are testing for Factor H gene mutations, here is Dr. Smith's email address, [e-mail]. We have had four family members affected by AHus and the latest case used Dr. Smith. Perhaps this can help. Our son underwent the dual transplant and had his genetic testing done in Italy at the same research facility. Your are in our prayers, stay strong.

Jaime Sheeder

[Kamal D Shah]

Thanks so much Cheryl for the information. Yes, I am following all the research on this site and elsewhere. Thanks again!

[Kamal D Shah]

Hello Grace, thanks for your comment. I just learnt that the buccal swab DNA is not going to be enough. So, I will need to find someone who can extract DNA from a blood sample. If I want to do the remaining tests, that is.

[Kamal D Shah]

Hi Kerri, thanks for your response. Yes, what you say makes sense. That's the very point I was trying to make. If the remaining tests are not going to change the decision regarding a transplant, then why bother?

[Cheryl Biermann]

Hi, Kamal,

If you follow the patients who are receiving Eculizimab, (Soliris), there are patients who have no known genetic mutation but have had wonderful success in preventing further damage to their kidneys and other organs. Based on this, I think it would be helpful for you to peruse all the current research on this site and perhaps even look for new items we may not have posted.

Good luck, by the way, we were a similiar situtation for years. Our sample was opened before reaching the lab, and therefore it sample was not viable for genetic testing. We worked under the assumption we were dealing with Factor H based on a protein test and his response to FFP. It wasn't until eight years later that Dr. Smith did another test where he found MCP and Factor H related mutations. So hang in there, they are developing new tests.

[Grace]

Sorry, Kamal, for the frustrating technical glitch. I wonder, too, whether at this point past medical history (ie recurrence post-transplant) is more telling than any genetic test, but some doctors really want those test results.
In this country it is very easy to extract DNA from a buccal=cheek swab. The yield may not be as good as from blood, I really don't know. If you can find someone locally to extract the DNA you're probably better off as DNA can be shipped dry at ambient temperature, however there is more possibility for cross-contamination with the DNA of whoever handles the sample.

I hope things start working out better for you!

[Kerri Grey]

Hi Kamal, you must be feeling so disappointed right now, I know that i would love to have an answer as to what genetic mutation my son has. As far as i know i dont think knowing what mutation you have really makes too much of a difference in regards to a transplant unless you have factor H which you have already tested negatively for so at the end of the day the treatment post transplant would not be any different if you knew what mutation you have. Someone please correct me if i am wrong...