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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
Factor V Leiden (F5 gene) 3 Two shipments per year
Fragile X (FMR1 gene) 3
Hemochromatosis (HFE gene) 3
Methylenetetrahydrofolate reductase (MTHFR gene) c.665C>T (677C>T) and c.1286A>C (1298A>C) 3
Plasminogen activator inhibitor (PAI)‑1 (SERPINE1 gene) 3
Prader‑Willi/Angelman syndrome 3
Prothrombin (F2 gene) 3

Additional Information

  • The Prader-Willi/Angelman syndrome program is designed for laboratories using methylation techniques for analysis.
  • The Spinal Muscular Atrophy program includes SMN1 and SMN2 gene analysis and copy number analysis.

Program Information

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

Shipping Schedule

  • Shipment A: March 14
  • Shipment B: August 8