Microdeletion syndromes *
* Not within the current scope of accreditation
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
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