Clinical Analisys - Cytogenetics unit

The Cytogenetics Unit processes amniotic fluid and chorionic villus samples for prenatal diagnosis; samples of ovule remains, cariotypes in peripheral blood and oncohaematological cariotypes in bone marrow and peripheral blood.

Molecular cytogenetic tests are also carried out with the fluorescent in situ hybridisation (FISH) technique. This technique is based on the use of DNA probes from specific regions of the chromosomes marked with different fluorochromes. One of the applications is in prenatal diagnosis, to rule out the most frequent trisomies (in chromosomes 13, 18 and 21) and for foetal sexing. They are also used for detecting small microdeletions, such as Williams' Syndrome, Di George's Syndrome, etc.

Another important application of FISH is in the field of oncohaematology, with a wide variety of probes extending the value of prognosis. The Unit incorporates FISH techniques for spermatozoa, for infertility studies, evaluating the amplification of the Her2/neu gene in paraffin blocks in breast tumours and monitoring urothelial tumours in urine samples.

ANALYTICAL TECHNIQUES • Cell cultures • Culture extraction • Molecular cytogenetics (FISH) • Image analysis system:
	- Optical microscopy - Fluorescence microscopy - Cytovision image analyser
FIELDS OF ACTION • Prenatal diagnosis:
	- Cariotype in amniotic fluid, chorionic villus, foetal blood and ovule remains - Aneuploidy detection by molecular cytogenetics (FISH)
• Postnatal diagnosis • Chromosome studies with high resolution techniques • Cytogenetic studies in neoplasias:
	- Cariotype in bone marrow and peripheral blood - Oncohaematological molecular cytogenetic study (FISH) - FISH study in paraffinised samples (her2/neu) - FISH study in urine samples
• Male fertility study (FISH in spermatozoa) • In-situ hybridisation (FISH):
	- Microdeletion detection - Centromeric probes - Single-sequence probes
• Foetal maturity