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Molecular Cytogenetics

Molecular Cytogenetics

Molecular Cytogenetics (FISH)

Molecular cytogenetics is a discipline that combines molecular biology and cytogenetic techniques to expand the scope of routine chromosome analyses and increase their diagnostic value. It includes efficient and rapid methods that allow the identification of anomalies that cannot be detected by conventional cytogenetic methods, using fluorescently labeled DNA probes.

The Fluorescence In Situ Hybridization (FISH) technique is used to examine the presence or absence of a specific DNA sequence or to assess the number of a chromosome or a chromosome region. The FISH method is employed to quickly detect an abnormal chromosome in clinical material or to identify specific chromosomal rearrangements. Molecular cytogenetic FISH is used for the detection of the following conditions:

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    • Microdeletion syndromes

    • Detailed characterization of changes observed in routine cytogenetic examinations

    • Hematologic cancers

    • Genetic analysis in cancer tissue or biopsy material

    • Rapid aneuploidy testing by FISH in amniotic fluid, CVS, bone marrow, or peripheral blood (chromosomes 13, 18, 21, X, and Y)

    • Structural and numerical abnormalities not detectable by some chromosome analyses