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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
Bloom syndrome 3 Two shipments per year
Canavan 3
Familial dysautonomia 3
Fanconi anemia complementation group C 3
Gaucher 3
Glycogen storage disease type IA 3
Mucolipidosis IV 3
Niemann‑Pick type A/B 3
Tay‑Sachs 3

Additional Information

  • Module MGL4 is designed for laboratories testing for diseases/disorders related to Ashkenazi Jewish ancestry.
  • The Prader-Willi/Angelman syndrome program is designed for laboratories using methylation techniques for analysis.

Program Information

  • Three 50.0‑μg extracted DNA specimens

Shipping Schedule

  • Shipment A: March 25
  • Shipment B: October 15