Constitutional
Peripheral Blood Chromosome Analysis
Chromosome analysis (karyotyping) is the microscopic evaluation of metaphase chromosomes for numerical and structural abnormalities associated with disease. A nationally certified and state licensed cytogenetic technologist analyzes the banded chromosomes at a microscope. Digital images of representative cells are captured and the chromosomes are arranged in a standard format known as a karyogram. The karyograms are then reviewed by a board-certified and state licensed clinical cytogeneticist. Peripheral blood is the most common specimen type referred for analysis.