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Conventional chromosome analysis supplemented with fluorescent in situ hybridisation (FISH) technology has been the mainstay of diagnostic cytogenetic testing for many years.
WRGL was one of the first laboratories in Australasia to embrace and introduce microarray diagnostic testing for constitutional analysis. Microarray is now considered the diagnostic platform of choice for the investigation of intellectual disability and developmental delay in children. This powerful technology allows us to interrogate the whole genome with unparalleled resolution allowing the detection of sub-microscopic abnormalities. |