Fibroblast Culture for Genetic Testing
Producing fibroblast cultures that can be used for genetic analysis
Once confluent flasks are established, the fibroblast cultures are sent to other laboratories, either within Mayo Clinic or to external sites, based on the specific testing requested.
This test should be used when the specimen is chorionic villi or when cytogenetic testing is needed. For other specimen types and any other genetic testing, we recommend ordering FIBR / Fibroblast Culture, as these specimens are cryopreserved indefinitely once testing is complete.
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Fibroblast or chorionic villus culture for cytogenetic or molecular genetic testing only. The additional test(s) desired must be indicated on the request form that accompanies the specimen.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Fibroblast cells may be used to perform a wide range of laboratory tests. Prior to testing, the tissue may need to be cultured to obtain adequate numbers of cells.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Prior to obtaining chorionic villus specimens (CVS) for specific cytogenetic testing, it is crucial to identify a laboratory that will perform testing for the disorder in question and establish that they will perform the study on cultured CVS or fibroblasts.
Including clinical information provided with the specimen is very useful. This allows the laboratory to identify and verify the correct testing to perform.
-Inadequate amount of specimen (we recommend 20 mg of CVS) may not permit adequate analysis
-Exposure of the specimen to temperature extremes (freezing or >30 degrees C)
-Improper packaging may result in broken, leaky, and contaminated specimens during transport
-Extended transport time
-In products of conception/autopsy/stillbirth specimens, a lack of viable cells or bacterial contamination (this occurs in approximately 20% of spontaneously aborted products of conception), or a long delay between fetal death and the miscarriage
-It is difficult to differentiate between maternal and fetal cells in some specimens. Culturing of maternal cells rather than fetal cells can cause discrepant results.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
Spurbeck JL, Carlson RO, Allen JE, Dewald GW: Culturing and robotic harvesting of bone marrow, lymph nodes, peripheral blood, fibroblasts, and solid tumors with in situ techniques. Cancer Genet Cytogenet 1988;32:59-66