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
GenQA (Genomics Quality Assessment) provides external quality assessment (EQA) / proficiency testing (PT) to the genomics community worldwide. GenQA EQAs cover the entire clinical genomics service from patient counselling, sample preparation, testing processes, results interpretation and reporting. Laboratories and individual clinicians have access to more than 100 unique EQAs available for a range of rare and inherited disorders and acquired diseases. Please click here for an overview of GenQA