2 Variant Partner Discussion Guide

2 Variant Partner Discussion Guide

Based on my Mayo Clinic GeneGuide™ results, what does my partner need to know?

This test has indicated that you have two genetic variants in a Mayo Clinic GeneGuide™ carrier screening condition. If this result is unexpected to you it's important to follow up with a health care provider. Read the health care discussion guide for more information.

How does my partner get tested?

If you and your partner may have children in the future, your partner should consider more comprehensive testing through his or her health care provider. Depending on the gene, full gene sequencing usually identifies around 99 percent of genetic variants in any ethnicity. If your partner has comprehensive testing and no genetic variants are found, there is greater certainty that he or she is not a carrier and your combined risk for having an affected pregnancy is very low. Your health care provider and insurance provider can help you understand whether your partner's health insurance will cover the cost of comprehensive gene testing.

What if my partner gets tested through Mayo Clinic's GeneGuide™?

If your partner orders testing through Mayo Clinic GeneGuide™, he or she will be tested for the most common genetic variants in this gene, just as you were. This identifies the majority of carriers in the ethnicities in which the condition is most common. If your partner's test does not find any genetic variants, your combined risk of having a pregnancy affected with this disease is low, but not quite as low as if he or she had comprehensive gene testing.

What if my partner is a carrier? Is there anything we can do?

If you and your partner have an increased risk of having an affected pregnancy you can discuss reproductive testing options that may be available to you with your health care provider or with a genetic counselor. Learn more about reproductive options.