Pathogenicity of germline sequence variants (Classification & Interpretation)
PURPOSE OF PROGRAMME:
Classification and interpretation of pathogenicity of germline sequence variants. Submit a clinical report.
MATERIAL PROVIDED: Case Scenario
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 3
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
Determine the pathogenicity of several sequence variants identified from a single WGS/large panel sequencing analysis
Details of the performance criteria for this programme can be obtained from UK NEQAS Genomics (GenQA) directly.
Telephone: +44 (0) 131 2426898
From 1st January 2018, Cytogenomics External Quality Assessment Service (CEQAS) and UK National External Quality Assessment Service (UK NEQAS) for Molecular Genetics merged to become Genomics Quality Assessment (GenQA). Please click here for an overview of GenQA