Bardet Biedl Syndrome (BBS) Genetics

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2021 BBSFA Virtual Conference Series

The Bardet Biedl Syndrome Foundation & Family Association is proud to present, BBS Genetics, the second in a new series of informational videos about BBS.

Thank you to human genetics researcher Erica Davis, Ph.D. at Lurie's Children's Hospital of Chicago & Northwestern University for presenting.
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I just got my test results back and I have the BBS4 gene variant. More indepth information is not much.

MzSmokey
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What does conflicting mean on a genetic test results vs not applicable ?

ciarataylor
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Can I get more information? Also where should we go for help with this? My son has this marked on DNA as well as SLS7.

Carolmom
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If one parent Carries BBS7 and one Carries BBS10 and their child shows BBS7 & 10 on genetic test with one variant in each are they carriers or do they have BBS ?

ciarataylor