Test BackgroundCytogenetics 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
Sample Required Heparin (green top) For Fragile X also send EDTA (lavender top)
Sample Volume 0.5-2 mL paediatrics 5-10 mL adults
Turnaround Time Up to 6 weeks
NotesNot currently performed in house; this is a referred test.
Clinical Biochemistry will forward these specimens to the Kennedy Galton Regional Cytogenetics Laboratory. Specimens will only be forwarded if they are accompanied with the request form
Download the request form here