A preliminary step in obtaining material for the diagnosis of many lysosomal storage disorders and other genetic conditions
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Fibroblast culture for biochemical 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
Cultures of skin fibroblasts may be helpful in diagnosing many of the lysosomal storage disorders such as the sphingolipidoses or mucopolysaccharidoses. In addition, numerous assays including those for genetic disorders of collagen, DNA repair, fatty acid oxidation, and pyruvate metabolism can be diagnosed using fibroblasts.
Cells from skin biopsies can be cultured at Mayo Clinic and sent to laboratories performing these specialized tests. Cells are frozen for potential future studies on cultured cells or DNA diagnostic procedures.
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.
In the rare event that the biopsy fails to result in fibroblastic outgrowth, the client will be informed as soon as possible.
Mycoplasma screening will be performed on all successfully grown fibroblast cultures. If Mycoplasma is detected, all pending fibroblast clinical testing will be cancelled and the samples will be discarded.
Both laboratory and clinical contacts are available to help with test selection
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Potential interfering factors:
-Lack of viable cells or bacterial contamination
-Failure to transport tissue in an appropriate media
-Excessive transport time
-Exposure of the specimen to temperature extremes (freezing or >30 degrees C)
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
Paul J: Cell and Tissue Culture. Fifth edition. New York, Churchill Livingstone, 1975