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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 molecular genetic testing.
A preliminary step in obtaining cultured cells for the diagnosis of many lysosomal storage disorders and other genetic conditions
Potential interfering factors:
-Lack of viable cells
-Failure to transport tissue in an appropriate media
-Excessive transport time
-Exposure of the specimen to temperature extremes (freezing or >30 degrees C)
-Improper packaging may result in broken or leaky specimen containers or contamination of specimens during transport
Paul J: Cell and Tissue Culture. Fifth edition. New York, Churchill Livingstone, 1975