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Analytes/procedures in bold type are regulated for proficiency testing by the Centers for Medicare & Medicaid Services (CMS).

Disease/Gene Challenges per Shipment Number of Shipments
Cystic fibrosis (CFTR gene) 2 Two shipments per year

Additional Information

  • The cystic fibrosis program is designed for laboratories that are testing for the minimum mutation panel for population-based carrier screening (ie, the ACMG-23 mutation panel) from the ACMG Technical Standards and Guidelines for CFTR Mutation Testing, expanded panels, PolyT variant analysis, and/or full gene sequencing.

Program Information

  • Two 50.0‑μg extracted DNA specimens

Shipping Schedule

  • Shipment A: May 11
  • Shipment B: September 28