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MOLECULAR GENETICS SERIES - MGL2
MGL2
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
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