A chromosome analysis can be useful in a wide variety of clinical situations. In a prenatal setting, a chromosome analysis may be ordered when the patient is of advanced maternal age (AMA), if there is an abnormal maternal serum triple screen, when anomalies are detected by ultrasound, or due to a concerning family history. The karyotype in these prenatal situations is obtained through amniocentesis or chorionic villus sampling (CVS). Postnatally, a chromosome analysis may be ordered when a patient has multiple congenital anomalies, growth delay, developmental delay or reproductive difficulties. The chromosome analysis in these situations is typically performed on a peripheral blood sample. However, a karyotype can also be obtained from other tissue types. Finally, chromosome testing may be useful when diagnosing and treating certain types of cancers. Most commonly, bone marrow or tumor tissue are used in these analyses. In all of theses cases, the karyotype may help in the diagnosis, prognosis or disease monitoring.
In order for chromosome testing to be successful proper specimen collection and handling are crucial. The following guidelines are required.
The specimen should be:
The specimen should not be:
The turn around time for a chromosome analysis depends on several factors including the type of specimen, the quality of the specimen and any additional tests ordered. Results from a peripheral blood specimen typically take two weeks, results from an amniocentesis are generally available in one week, and bone marrow results are obtainable within 7-10 days. Fluorescent in situ hybridization (FISH) varies in turn around time, but results are typically available within days.
The cost of a chromosome analysis varies depending on the type of study ordered and insurance coverage. To learn more about the cost of a particular test, please contact the hospital’s financial department and your insurance company to determine coverage.
The laboratory is presided over by the Director of Cytogenetics who is a medical cytogeneticist (American Board of Medical Genetics). The laboratory has seven cytogenetic technologists.
“I have a B.A. in Human Biology from the University of Kansas. During college, I worked with people of all ages who had disabilities and genetic conditions. Due to my interest in genetics I interviewed at a cytogenetic laboratory where I learned that many diseases result from chromosome abnormalities. I immediately knew that I wanted to work in cytogenetics after seeing how chromosomes relate to congenital disease. If you are interested in learning more about my career choice please visit the Association of Genetic Technologists, Inc. (AGT).”
Traci Troyer, CLSp(CG)