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Publication, Part of

Genetic test activity in England and Scotland, 2014/15 and 2015/16

Summary

This publication presents the results and analysis of the national data collection from UK Genetic Testing Network (UKGTN) member laboratories of NHS molecular and cytogenetic test activity for inherited diseases. It is the first time cytogenetic test activity has been collected as part of this data set.

Data for Wales and Northern Ireland is not presented due to the legal framework around the data collection.

Note, the UK Genetic Testing Network (UKGTN) closed in 2018 when most of its functions moved to the Genomics Unit at NHS England.



Key Facts

In addition to a national overview of testing, the laboratories were asked to flag tests for the following:

  • Huntington's disease
  • Familial breast cancer
  • Fragile X syndrome
  • Tests that used array CGH and MLPA for genomic imbalance / microdeletions
  • All tests that used QF-PCR and FISH for aneuploidy



Last edited: 5 March 2020 12:17 pm