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
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