Chromosome analysis is an important component in the diagnosis and evaluation of genetic disorders. Chromosome abnormalities in which there is too much or too little genetic material can result in congenital malformations, intellectual disability, and aberrant sexual differentiation. Chromosome analysis can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements. For routine chromosome analysis a minimum of 20 cells are counted to determine the modal number, and a minimum of 5 cells are analyzed for chromosomal abnormalities from G-banded preparations.
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