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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) 3 Two shipments per year
DMD/Becker (DMD gene) 3
Friedreich ataxia (FXN gene) 3
Hemoglobin S/C 3
Huntington (HTT gene) 3
Myotonic dystrophy (DMPK gene) 3
RhD 3
Spinal muscular atrophy (SMN1 and SMN2 genes) 3
Spinocerebellar ataxia (ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes) 3

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

  • Three 50.0‑μg extracted DNA specimens per disease/gene

Shipping Schedule

  • Shipment A: May 9
  • Shipment B: September 26