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.
Clinical Indications Dysmorphic features/congenital abnormalities Learning difficulties/developmental delay Ambiguous genitalia Reproductive problems, eg. repeated miscarriage Haematological malignancy
Reference Range See report
Sample Required See request form and instructions
Sample Volume See request form and instructions
Turnaround Time Up to 6 weeks
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