Preimplantation genetic testing (PGT) of Blastomere (FISH)
Rearrangements where the likely imbalance is <10Mb
PURPOSE OF PROGRAMME:
Analysis and interpretation of structural chromosomal rearrangements in preimplantation blastomeres by FISH: Stage 1, Workup of FISH probes for PGT-SR analysis and Stage 2, interphase FISH analysis of blastomeres.
MATERIAL PROVIDED: Images: FISH (Fluorescent In-situ Hybridisation
DISTRIBUTIONS PER YEAR: 2
SAMPLES PER DISTRIBUTION: 2
FREQUENCY OF DISTRIBUTION: over 2 month period
PROGRAMME OF ANALYSIS:
Testing strategy based on case scenario presented and online FISH analysis of interphase nuclei. Stage 1: Work up of probes for a given rearrangement. Stage 2: Online analysis blastomere FISH images.
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