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Genetic testing

vistaonly Message
4 Feb 2012, 05:32 AM

Lada, My wife is pregnant 6 weeks. My son is diagnosed with dents. and my wife is a carier. Can we have it checked during the pregnancy? what kind of tests will give us the details about the unborn baby, to avoid dents. Thanks
LadaBL Message
7 Feb 2012, 08:24 PM

Sorry for the delay. First of all, you should make sure you know what is the mutation causing Dent disease in your son. Prenatal genetic testing for Dent is not routinely done. I have asked the question to our geneticist and I will answer you as soon as he replies. Of course, once you know baby's gender, you will know more. Is your wife going for amniocenthesis? Lada
minu Message
7 Feb 2012, 10:07 PM

For my last pregnancy 12 years ago, I know that the doctors had someone in the lab working on a prenatal genetic test specially for me. My amnio was also scheduled the earliest possible (I think it was at 12 or 13 weeks). But, after all, my baby was not tested as, a day or two after the amnio, they called me to tell me it was a girl and would therefore not check for Dent. For both my girls, I was not allowed to know and was told that they will have to decide for themselves when they are adults if they want to know or not if they are carriers. After Dr. Scheinmann's research in the 1990's, in which my son and I participated, I believe testing for Dent can be done with a simple blood sample. Is that correct?
LadaBL Message
8 Feb 2012, 01:23 PM

I have checked with the geneticist and it is possible to do the prenatal testing from amniocentesis through commercial lab like GeneDx, but you have to know the mutation in your son. Or alternative method can be used, like linkage analysis, looking at other genes at X chromosomes of mother and son with Dent. Blood is not available from the fetus, he is in mother's uterus, his genes are available through the amniotic fluid which contains his cells. You would have to consult genetic counselor. Hope this helps! Lada
vistaonly Message
10 Feb 2012, 04:10 AM

Thanks for the info both Lada and Minu. My son has Dent disease 1 (CLCN5 defect), I can find more details about the mutation that my son has in the mean time. I heard cvs can be done between 11 to 14 weeks. Aminosenthisis is done more later in the pregnency. If possible i may try for CVS. We have a obgyn apointment next week, i will ask more direction in that appointment. Thanks
vistaonly Message
10 Feb 2012, 04:21 AM

Do we know CVS or Aminosentisis which one is better, less risk to the baby and mother.
vistaonly Message
6 May 2012, 03:26 PM

We had gone through cvs and all the results came normal. no impact of the gene. Thanks all for your help.
LadaBL Message
7 May 2012, 12:50 PM

Good news! Thanks for the update. I did not see your previous post, sorry, didn't get notification, I believe. Lada
LadaBL Message
6 Jun 2012, 09:25 PM

Genetic testing for all suspected to have Dent disease but did not have genetic testing yet is now available through our research project for free. You will be asked to provide medical information to show that you/your child have possible Dent disease and sign a consent. If you are interested, please contact Barbara Seide. Phone: 507-255-0387 | 800-270-4637 | fax: 507-255-0770 | seide.barbara@mayo.edu | hyperoxaluriacenter@mayo.edu | Lada
rreynolds444 Message
21 Jan 2013, 06:45 PM

I have never posted anything on this website before, but I have a 13-year-old boy that has Dent's Disease. I have 5 other children....1 boy that does not have Dent's & 4 girls. The genetic testing came back today for my girls & 3 of my 4 girls are unaffected carriers & 1 daughter is not a carrier. My question is if my son that has Dent's Disease needs a kidney in the future, could one of my daughters that is a carrier, donate a kidney if she matches? If I could get the answer to that question, it would give me some peace of mind. Thank you.
minu Message
21 Jan 2013, 07:02 PM

Hi, rreynolds444. I will let Lada confirm this, but I am quite sure, yes, they could because of my own family's experience. My female cousin, who is a carrier, gave her affected son one of her kidneys 17 years ago already! He was 23 and is now 40. This cousin also has 3 daughters. I believe they were all tested as donors, but my cousin, his mother, was the best match. Both my cousin and her son are doing well.
LadaBL Message
21 Jan 2013, 09:46 PM

Yes, as you said it has been done. For the patient, it's good. What is the long term effect for the donor who is a carrier and who potentially has some kidney manifestation, it's not clear. As you said, so far so good. There is not much experience in the field. We would say, it's probably ok. Lada