Test Background Cytogenetics is concerned with the analysis of the chromosome complement of an individual to determine whether there is a change from the expected number of 46 chromosomes (eg. Down’s syndrome) or whether there is a microscopically detectable change in chromosome structure that could be of pathological significance.
Notes Not currently performed in house; this is a referred test.
Clinical Biochemistry will forward these specimens to the North East Thames Regional Genetics Service Laboratory (Great Ormond Street Hospital). Specimens will only be forwarded if they are accompanied with the request form