Pathogenicity of germline sequence variants (Classification only)
PURPOSE OF PROGRAMME:
Classification of the pathogenicity of germline sequence variants. Submit results via a proforma
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. Submit your classification and supporting evidence in a proforma.
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