Sam Battenberg, BS

Megan Benoy, MGCS, CGC

Recurrent Fevers and Uncertain Variants: Navigating Immunology Genetics in a Pediatric Patient

• Describe the clinical features and genetic etiologies of recurrent and periodic fever syndromes in pediatric patients.
• Recall key features that raise suspicion for primary immunodeficiency and guide genetic evaluation.
• Discuss the interpretation of variants of uncertain significance identified through immunology genetic testing panels.

Mackenzie Mosera, MAT, MS, MPH, CGC

NF1 or Not so Fast: Missing Features, Managing Uncertainty & Unmasking Mosaicism (?)

• Describe core clinical features, diagnostic criteria and age-related penetrance of Neurofibromatosis type 1 (NF1).
• Identify counseling approaches for addressing uncertainty as it relates to incomplete penetrance, variable expressivity, unclear residual risk for future manifestations and implications for surveillance and family members.
• Discuss genetic testing strategies to identify and interpret mosaic NF1 variants, including consideration of variant allele fraction, tissue source, and limitations of standard sequencing approaches in detecting low-level mosaicism.