Angelman syndrome (AS) Beckwith Wiedemann syndrome (BWS) Silver-Russell syndrome (SRS) / Russell-Silver syndrome (RSS) UPD7, UPD11, UPD15
PURPOSE OF PROGRAMME:
Molecular testing for AS, BWS and SRS.
MATERIAL PROVIDED: DNA in TE buffer
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 3-4
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
Index case, single gene, familial/predictive testing
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