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MOLECULAR GENETICS SERIES - MGL5
MGL5
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.