more in depth PGD question

jen102279

So long story short I am a carrier for a very rare genetic defect that has been id'd thanks to sequencing.  So we just automatically thought, ok they can do PGD...well I'm an idiot LOL I work in science research so I should've known that is was more complicated than that.  They will have to make a probe to be used to test the cells that would be able to id the defect.  So it's another cost for us.

Has anyone else had to have a probe made first?

Was it one and done or did they have to try multiple times to get a good probe? Did they give you an accuracy % of the probe?

Any info would be helpful as I'm feeling pretty down right now.

SuperPsi

I don't have any experience in this area but I wanted to send you T&P that you get your answers.

jen102279

Thank you

pblge

Isn't it usually just a PCR test? (I used to do lab stuff, too.) Or is it a Southern blot/microarray situation? If it's just the PCR, seems like the primers wouldn't be hard to obtain.

Sorry you're in this situation. It's a crappy hand to be dealt. ((hugs)).

Psualum05

I just had a probe made due to a microdeletion that I have. They were very up front saying that it would take longer than most to make, over 10 weeks, and that due to the challenges it may not be possible. They came back within 4 weeks and were very excited to say they were able to make a probe. It only took one try and they are 98% confident. They said the more embryos they have to test the more accurate the results. I am now starting my first ivf cycle and go tomorrow for my baseline appointment. Good Luck!

amandanuko

My hubby also has a rare genetic disorder which is why we choose to do PGD and IVF. It was a lengthy process where they had to ID the abnormality in the sequence. Once they completed that we worked with Reprogenetics to create the probe (Single Gene Disorder) which took 7 months. I think our case was pretty complicated which is why it took so long for them to create the probes. They needed both of our DNA plus both of my husband’s parents DNA. It cost $3000 for us to create the test and then $2500 for them to actually do the testing on the embryos. My Doctor also recommended we do the aCGH chromosome testing as well since we were doing the PGD which was an additional $2750. To answer your question they said there was 90% accuracy on the probe.  

I just did IVF and 7 embryos made it to 5 and 6 day blasts when they were biopsied and frozen. The results took 11 days. I got the results over the weekend and 2 came back normal, one positive for the Disorder and 4 were undeterminable/chaotic DNA. I have to speak with my Doctor about what to do with the other 4 since we want a large family but I am so thankful to have 2 healthy embryos. Hope this helped. <?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />

jen102279

pblge said:

Isn't it usually just a PCR test? (I used to do lab stuff, too.) Or is it a Southern blot/microarray situation? If it's just the PCR, seems like the primers wouldn't be hard to obtain.

Sorry you're in this situation. It's a crappy hand to be dealt. ((hugs)).

I think it is, I work in a lab too! But I do way more TC and western blots...so am not 100% sure on this

jen102279

Psualum05

AmandaGT26

Thank you both for responding! I have more hope now! It may take longer than I wanted, but I know it's still in my grasp! Thank you so much!

jen102279

IFinTN said:

You might have already done this, but I bet the PAIF/SAIF ladies have more info on that. I know I have seen a few come through that did probes but can't remember who off the top of my head. Sorry!

according to their descriptions, I don't fit their mold LOL. Do you think they would mind if I posted the question in there?

Lc102310

I am in the process now of having the probe set up. I am a carrier of DMD, so they needed my DNA, my husbands and my parents.  I was told between 8-10 weeks for the probe to be completed. I sent everything to the lab in NJ a few weeks ago.....hoping they will have it done soon.

Good Luck!
Lisa

jen102279

@LC102310

Lisa!! Thank you!!! A timeline is very helpful!! And it gives me some hope of things to come!!