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Test ID: FIBR    
Fibroblast Culture

Useful For Suggests clinical disorders or settings where the test may be helpful

A preliminary step in obtaining cultured cells 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.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

When this test is ordered, cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple assays on a patient utilizing the ordered fibroblast culture, only 1 culture is required regardless of the number of assays ordered. If viable cells are not obtained within 30 days, client will be notified. 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.

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 molecular genetic testing.

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.

Not applicable

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

-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)

-Improper packaging may result in broken or leaky specimen containers or contamination of specimens during transport

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