Molecular Cytogenetics at Bristol Genetics Laboratory

Molecular Cytogenetics describes a range of techniques used to supplement, and in some instances replace, conventional cytogenetic techniques.  Molecular cytogenetic techniques utilised by the Bristol Genetics Laboratory (BGL) include:

  • Microarray comparative genomic hybridisation (CGH) as the first line test for patients referred to the laboratory with learning disability and/or congenital abnormalities
  • Fluorescence in situ hybridisation (FISH) for a range of constitutional and oncology applications
  • Quantitative Fluorescent (QF) PCR allows the rapid detection of the common viable aneuploidies e.g. trisomy 21 and is primarily used in a prenatal setting for those pregnancies determined to be at a high risk.

Last Updated: 30th December 2019