Lorena Dujmusic, BS
Elizabeth Kellom, MS, CGC
Title: “To trust or not to trust: Familial implications amidst variant classification discrepancies in FARS2”
- Summarize the natural history of both phenotypes of FARS2 Deficiency.
- Formulate ideas to address variant classification discrepancies with patients.
- Propose appropriate situations in which carrier testing should be offered despite lack of clinical utility.
Abigail Freeman, MS, CGC
Title: “Mysterious D.U.S – a duplication of uncertain significance in COL6A2”
- Define the phenotypic and mutational spectrum in COL6A2 disorders
- Identify optimal testing strategy in the context of limited medical resources and family history information.
- Discuss differential importance of a genetic diagnosis for a patient vs a provider
- 1.00 AMA PRA Category 1 Credit™
- 1.00 ANCC Contact Hours
- 1.00 NSGC Category 1 CEU Contact Hours
- 1.00 University of Wisconsin–Madison Continuing Education Hours
- 1.00 Approved for AMA PRA Category 1 Credit™