What is the Genetic Test Summary (GTS)?
The Genetic Test Summary is a report that tells you which genetic tests were performed on a specific donor and the results of those tests.
How should the information on the GTS be used?
We strongly recommend that you download and discuss a donor’s Genetic Test Summary with your physician and/or genetic counselor PRIOR to using that donor’s specimens for your reproductive plans. Your healthcare providers can help you determine if that donor’s results are appropriate for your needs or if special testing should be considered on you or your donor.
Why are some donors screened for more conditions than other donors?
All donors have screening for all of the conditions recommended by the American College of Medical Genetics and Genomics (ACMG). DNA Advantage Donors have had Expanded Genetic Testing which includes carrier screening for over 260 disorders. A donor may have also had additional testing through our Special Testing Service. Clients can request that special testing is performed on a donor due to her own positive carrier test result or other needs. All of the tests performed on a donor and the results of testing are available as part of the donor’s Genetic Test Summary.
What is a residual risk and how are the residual risks calculated?
No genetic testing has a detection rate of 100%. There will always remain a small possibility that a person could carry a mutation that is not detected by the testing performed. A residual risk is the chance that the donor could still have a genetic mutation for that condition even though the test result was negative or normal. The residual risk is interpreted by the testing laboratories and is based on the donor’s ethnic background, the mutations analyzed, and how commonly the mutations occur in the population tested.
Why is the residual risk not available for some of the tests?
A specific numerical residual risk may not be available for several reasons. There may be limited research for that particular condition or limited information about that condition among individuals who share the donor’s specific ancestry(ies). If the residual risk is not available, this does not mean there is a higher risk for the donor to be a carrier for that condition. It just means a specific residual risk cannot be provided.
What is the difference between "targeted mutation analysis" and "sequencing" analysis?
Targeted mutation analysis involves testing only for specific mutations that are well known and commonly occur in a specific gene and population being tested. Sequencing is a test that evaluates a large portion of a specific gene to detect any possible change in that sequence, whether or not it is a known or common mutation. There are benefits and limitations to both testing techniques. Your healthcare providers can help you determine if the testing performed on a donor is appropriate for your needs.
We have professional genetic counselors on staff available to assist you with any questions you may have regarding genetic testing or a sperm donor's family medical history. To schedule a consultation about genetic testing performed on a donor or about a donor's medical history, please contact the Genetics Department at 877-743-6384.