Comprehensive Genetic and Chromosomal Mapping - Chromosomal Analysis

A cytogenetic analysis during which cells (usually from blood or amniotic fluid) are cultured and then chromosomes are analyzed during the metaphase stage under a microscope. The goal is to assess the number of chromosomes (such as trisomy 21 in Down syndrome) and their structure (such as translocations, deletions, duplications) to detect chromosomal abnormalities associated with many genetic diseases.