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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 (BLM gene) 3 Two shipments per year
Canavan (ASPA gene) 3
Familial dysautonomia (IKBKAP gene) 3
Fanconi anemia complementation group C (FANCC gene) 3
Gaucher (GBA gene) 3
Glycogen storage disease type IA (G6PC gene) 3
Mucolipidosis IV (MCOLN1 gene) 3
Niemann‑Pick type A/B (SMPD1 gene) 3
Tay‑Sachs (HEXA gene) 3

Additional Information

  • Module MGL4 is designed for laboratories testing for diseases/disorders related to Ashkenazi Jewish ancestry.

Program Information

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

Shipping Schedule

  • Shipment A: June 15
  • Shipment B: November 23