Chromosome disorders form a major category of genetic disease. The incidence of chromosome abnormalities is relatively common in the population. In a clinical setting, chromosome abnormalities account for a large proportion of cases involving spontaneous abortuses; individuals with congenital malformations, mental retardation, or infertility; women with gonadal dysgenesis; and couples with repeated spontaneous miscarriages. Additionally, the field of cytogenetics is now important in the workup of patients with hematologic/oncologic disorders. Cytogenetic testing in this area is used for diagnosis, classification of disease, helps with decisions about treatment and to monitor disease status and recovery.
The Cytogenetics Laboratory at Mayo is a leader in the field of cytogenetics. Our laboratory directors and staff are committed to providing the highest quality of cytogenetic analyses available to complement your clinical practice. In traditional cytogenetics, we are world renowned as inventors of automated harvesters and other innovations that have led to increased efficiency in the processing of specimens. We are consistently at the forefront of the development and implementation of new tests by FISH (fluorescence in situ hybridization) and array CGH (comparative genomic hybridization) for congenital and hematologic/oncologic disorders.
The Cytogenetics Laboratory provides comprehensive services in all types of chromosome studies, including congenital disorders, prenatal diagnosis, and hematologic/oncologic disorders. These studies include both traditional cytogenetics techniques as well as molecular cytogenetics by FISH. Please refer to the test listing for details.