Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts
Use
The Mitochondrial Respiratory Chain Enzyme Analysis (ETC) is crucial for diagnosing mitochondrial disorders such as Leigh Syndrome, cytochrome c oxidase deficiency, and various complex I deficiencies. These conditions often result from mitochondrial and nuclear gene mutations that affect the electron transport chain. By measuring the activity of electron transport chain complexes, the test provides an insight into the functional capacity of mitochondria. It helps in identifying deficiencies in specific complexes, which can contribute to the development of targeted treatment plans and further genetic counseling.
Special Instructions
Cultured fibroblasts are the preferred specimens, requiring 3 T-25 flasks filled to the neck with culture media. They must maintain sterility and be forwarded promptly at ambient temperature. The Baylor Mitochondrial request form must be completed and submitted with the specimen.
Limitations
The test is highly sensitive to specimen handling, requiring accurate maintenance of temperature and conditions during transport. Any variation might affect enzyme activity readings. It is also limited to the analysis of complexes I, II, I+III, II+III, and IV, and results depend on proper normalization to citrate synthase activity. Technical issues like interlab variability may influence results, necessitating careful interpretation within clinical context and comparison to control means.
New York Approved
Methodology
Other (Spectrophotometric)
Biomarkers
Result Turnaround Time
42-45 days
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
Not provided
Minimum Volume
Not provided
Container
3 T-25 flasks filled to neck with culture media
Collection Instructions
Maintain sterility and forward promptly at ambient temperature. Complete and submit Baylor Mitochondrial request form.
Causes for Rejection
NA