Autosomal recessive disorder e.g. Cystic fibrosis (CF) Autosomal dominant disorder e.g. Huntington disease (HD) X-linked disorder e.g. Duchenne muscular dystrophy (DMD)
PURPOSE OF PROGRAMME:
Case scenario requiring interpretation of linkage markers within a family.
MATERIAL PROVIDED: Case Scenario
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 3
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
A pedigree and results from analysis of linkage markers are provided. Laboratories should interpret and report according to their laboratory policy.
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