Automating the cytogenetics process

Automation has has brought about many benefits at the cytogenetics laboratory of an Italian regional hospital

The cytogenetics laboratory at the Regional Hospital of Treviso performs tests in different fields of clinical medicine including cancer cytogenetics (onco-haematology and solid tumours) and postnatal tests to detect constitutional abnormalities. The laboratory analyses approximately 2200 cases per year.

Techniques employed and clinical indications

The main techniques employed are: karyotyping/chromosome analysis; fluorescence in situ hybridisation (FISH); and comparative genomic hybridisation (array-CGH).

Karyotyping

Classical cytogenetic analysis is carried out on peripheral blood, skin and bone marrow samples to detect constitutional and acquired abnormalities. The clinical indications for investigation of constitutional karyotype are:

• Primary or secondary amenorrhoea or premature menopause
• Sperm abnormalities, such as azoospermia or severe oligospermia
• Clinically significant abnormal growth
• Ambiguous genitalia
• Abnormal clinical phenotype or dysmorphism
• Multiple congenital abnormalities
• Intellectual disability or developmental delay;
• Suspected deletion/duplication syndrome
• A malformed foetus or stillbirth of unknown aetiology
• Third and subsequent consecutive miscarriages.