Imperial Collage Healthcare

Cytogenetics (chromosomes) (GOS)

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

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

Download the request form here

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