Chromosome Studies

Also known as: karyotype, extended banding chromosome studies, fluorescent in situ hybridization, chromosomal microarray analysis.

What are chromosome studies?

Chromosome studies refer to a variety of different genetic tests that medical experts can perform on a blood sample, prenatal specimen, skin biopsy or other tissue sample. The purpose of these studies is to determine the nature of genetic or inherited disorders that are present in individuals. They can also be used to look for causes when a couple has not multiple miscarriages or abnormal blood work and/or ultrasounds during pregnancy.

What happens during the procedure?

A routine blood draw or other tissue sample is required in order to begin the chromosome studies. The sample is then taken to a laboratory, where the chromosome studies begin.

Is any special preparation needed?

Special preparation may be needed for certain tissue samples to be collected.

What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of tissue sample collection takes place prior to the chromosome studies.

Reviewed by: Sajel L Kana, MD

This page was last updated on: April 06, 2021 10:19 AM