Genetic Testing

Genetic Testing

Anon
Anon

August 26th, 2011, 2:32 am #1

For those of you who have had or are having genetic testing done on the donor...

1. Cyctic Fibrosis - are they testing for 32 or 97 mutations?
2. Did they test the donor for spinal muscular atrophy?

My clinic did the 32 mutation test and did not do the SMA test at all and I'm beside myself, not to mention pissed.

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Joined: May 15th, 2009, 12:50 am

August 26th, 2011, 4:05 am #2

at my clinic. As is a meeting with their genetic counselor who reviews those test results and her family history medical information (parents, siblings, grandparents, aunts, uncles, cousins - as much detail as they were able to obtain from the donor) with the intended parents. We didn't have a choice whether or not to do genetic testing.
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minniet
minniet

August 26th, 2011, 10:10 pm #3

For those of you who have had or are having genetic testing done on the donor...

1. Cyctic Fibrosis - are they testing for 32 or 97 mutations?
2. Did they test the donor for spinal muscular atrophy?

My clinic did the 32 mutation test and did not do the SMA test at all and I'm beside myself, not to mention pissed.
But I can tell you my Dr.s office says they often have to do more extensive testing when working with proven donors, as not all clinics do as thorough testing (ie the previous clinic may have done no or dilatory testing). My clinic is Dr. Acacio in Orange County.

Honestly, with all the trouble we have had finding a donor who does not misrepresent their SATs or other info, I am not ready to bring close up genetic analysis into the game. I am glad Dr. Acacio does extensive testing, and I just let him approve or disapprove of that part.
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Joined: May 10th, 2011, 11:57 pm

August 28th, 2011, 11:10 pm #4

For those of you who have had or are having genetic testing done on the donor...

1. Cyctic Fibrosis - are they testing for 32 or 97 mutations?
2. Did they test the donor for spinal muscular atrophy?

My clinic did the 32 mutation test and did not do the SMA test at all and I'm beside myself, not to mention pissed.
We did Counsyl screening on both DH and the donor. It covers CF and a huge number of other things, including spinal muscular atrophy. I know this because my DH turned out to carry SMA, but since the donor was clear, we went ahead. In a way, I'm thankful that we didn't just get pg naturally, because we wouldn't have tested, and who knows, I might be a carrier as well (for Caucasians, the risk is 1 in 35).
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