Spectral karyotyping utilizes a combination of fluorescence in situ hybridization (FISH) and specialized imaging systems. The process begins with the preparation of chromosome spreads from cell samples, which are then hybridized with a mixture of fluorescently labeled DNA probes. These probes are specific to different chromosomes, each labeled with a unique combination of fluorophores. Upon binding to their complementary sequences on the chromosomes, the probes emit distinct spectral signatures.
A specialized microscope equipped with a spectral imaging system captures these emissions. The resulting images are analyzed using software that assigns a unique color to each chromosome, creating a comprehensive, multicolor karyotype. This allows for the detection of structural abnormalities such as translocations, deletions, and duplications.
