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.
- Chromosome abnormality or unusual variant detected at prenatal diagnosis
- Unbalanced chromosome abnormality in the products of conception
- Child with a chromosome abnormality
- Infertility of unknown aetiology.
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