Microdeletion syndromes (Pilot)
Pilot - Not Accredited
Microdeletion syndromes including: Prader-Willi syndrome Angelman syndrome Williams syndrome Di-George syndrome
PURPOSE OF PROGRAMME:
Analysis for detection of microdeletion syndromes: fixed cell suspensions for FISH studies and/or DNA for MLPA studies.
MATERIAL PROVIDED: Cells: fixed suspension, DNA in TE buffer
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 1
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
Testing of constitutional structural rearrangements by FISH or MLPA. Testing to include microdeletion probes.
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