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Livestreamed Session
Livestreamed Session

CLIN
Session Type: Consultation Clinic

CC04--The Wild World of CF Genetics

Saturday, October 25, 2025
8:00 AM - 9:15 AM PDT
Location:333-334

This case-based session will illustrate the challenges of diagnosing, treating, and providing tailored genetic counseling to people presenting with CF and related conditions across populations, ages and varying subspecialties. Considerations for evaluating family members will be discussed.

Learning Objectives:

  • Assess the impact of differences in CFTR variant interpretation by CF-specific databases (CFTR2, CFTR France) and genetic laboratory reports on genetic counseling for CF and CFTR-related disorders.
  • Discuss the utility of sweat testing and ancillary clinical diagnostic tests in a comprehensive evaluation of symptomatic individuals who have one or more CFTR variants.
  • Differentiate amongst genetic testing options when evaluating for CF and CFTR-related conditions, including CFTR clinical sequencing, deletion/duplication, full sequencing of introns and exons.

Presentations:

  • 8:00 AM - 9:15 AM PDT
    CC04.1- Prenatal Testing for CF: Helpful or Confusing?

    Speaker: Ruma Srivastava, MD – Children’s Hospital of Michigan

  • 8:00 AM - 9:15 AM PDT
    CC04.2- Cascade Diagnoses Within a Family

    Speaker: Allie Ortega, MS – Primary Childrens Medical Center

  • 8:00 AM - 9:15 AM PDT
    CC04.3- 34 yo CFTR carrier with mixed clinical picture of testicular failure and unilateral obstructive azoospermia in setting of bilateral palpable vas deferens.

    Speaker: Sarah Vij, MD – University of Texas at Austin Dell Medical School

  • 8:00 AM - 9:15 AM PDT
    CC04.4- Aquagenic Keratoderma as a Diagnostic Clue to CF in a Patient with Only One Known CTFR Mutation

    Speaker: Mina Zhang, MD – University of Massachusetts Medical Center