Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts
Use
The Mitochondrial Respiratory Chain Enzyme Analysis is specifically designed to assess potential enzymatic deficiencies in mitochondrial respiratory chain complex I-IV deficiency which is critical in generating ATP in cells. Several complex deficiencies can lead to multi-organ disorders particularly affecting the nervous system, heart, and muscles, with varying symptoms from birth or developing later. Patients might present with conditions like encephalopathy, epilepsy, and exercise intolerance which can be life-threatening. Identifying these deficiencies is crucial for effective management and treatment of affected individuals.
Special Instructions
Skin fibroblast culturing will be performed at Baylor Genetics and will add 14+ days to the turn around time. For those requiring muscle tissue specimens, please refer to test code 3200 for additional information and ordering details.
Limitations
This analysis requires specialized sample handling and processing which may limit the availability of results. Results may vary based on biochemical variations and the time of sample collection. Some enzyme deficiencies may also be missed by this method if not all complexes can be analyzed.
Methodology
Other
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Fresh)
Volume
3 T25 flasks
Minimum Volume
Not provided
Container
Insulated container
Collection Instructions
Send 3 T25 flasks at 60-80% confluence.
Storage Instructions
Ship at room temperature by overnight courier. Do not heat or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
Other tests from different labs that may be relevant