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 put in culture at Mayo Clinic and sent to laboratories involved in these specialized tests. Cells can also be frozen for future studies and DNA diagnostic procedures.
A preliminary step in obtaining material for the diagnosis of many lysosomal storage disorders and other genetic abnormalities
In the rare event that the biopsy fails to result in fibroblastic outgrowth, the client will be informed as soon as possible.
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
-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)
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.
Clinical References Provides recommendations for further in-depth reading of a clinical nature
Paul J: Cell & Tissue Culture. 5th edition. New York, Churchill Livingstone, 1975