Screening
BonJaim
Posts: 2
Do you screen for Fragile X, Spinal Muscular Atrophy, and Cystic Fibrosis?
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BonJaim
Posts: 2
Comments
We currently screen our donors for 97 mutations of Cystic Fibrosis.
We began SMA screening in mid 2008, so all donors active since then have been tested. If you are interested in checking on a retired donor for SMA testing, please contact our Genetics Department at 877-743-6384.
We do not test donors for Fragile X since the vast majority of the time it is passed on from the mother. For a more detailed explanation, or any other genetic related questions, please feel free to contact our Genetics Department.
Good luck,
Scott
CCB
A follow up question: since CCB tests all donors for cystic fibrosis, if they were positive as carriers are they automatically excluded from the program? Basically, I have to decide if I want to be tested as a carrier -- if there's no chance that my donor is, then there's really no need for me to be tested. So I'm wondering if I can rely on the fact that he has been selected as a donor as proof that he is not a carrier?
Thanks very much!
There is no way to absolutely prove anyone is not a CF carrier. We test for the 97 most common mutations of CF. However, there are many more that occur in very low frequency within the general population.
About 1 in 28 individuals carry a CF mutation which they may have inherited from either parent. Because it is a recessive trait (meaning you must inherit it from both parents to be affected), the majority of carriers never even know. If there is a history of CF in your family or you are concerned you may want to have yourself screened.
I would suggest you give our genetic department a call and discuss it. They are more than happy to help you assess your situation. They can be reached at 877-743-6384.
Good luck,
Scott
CCB
If a donor applicant tests positive for a CF mutation, he is not eligible to participate in our program. If you or a donor has a negative test results, this does not mean that you do not have a mutation for CF, but the negative result does significantly reduce the risk to have a child with CF.
The American College of Medical Genetics recommends screening for 23 mutations that are known to cause CF. We currently perform more extensive CF screening on our donors that the basic recommendations. We screen for 97 different mutations including the 23 recommended mutations.
If you have a family medical history of CF, you should consult with your physician about the decision to have yourself tested.
Regards,
Scott
CCB