Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
Use
This test is useful for diagnosing mitochondrial diseases that stem from variants in either nuclear-encoded genes or the mitochondrial genome. It serves as a second-tier test for patients whose prior targeted gene variant analyses for specific mitochondrial disease-related genes were negative. It helps identify variants known to be associated with mitochondrial disease, facilitating predictive testing for at-risk family members. Identifying disease-causing variants can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for mitochondrial disease.
Special Instructions
If skin biopsy is received, fibroblast culture will be charged additionally. For amniotic fluid specimens, an amniotic fluid culture is conducted for an extra charge. If chorionic villi or cultured specimens are received, fibroblast culture occurs at an extra charge. Maternal cell contamination testing adds to the cost for prenatal specimens. Cord blood specimens with maternal samples incur maternal cell contamination charges.
Limitations
PCR and NGS methods may not detect all potential variants or structural rearrangements leading to mitochondrial disease. Variants outside the regions targeted by this panel might be missed. Potential false positives or negatives exist due to DNA quality, presence of heteroplasmy, or low-level mosaicism.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
EDTA tube
Collection Instructions
Collect blood in an EDTA tube. Ensure the sample is maintained at room temperature during transport.
Storage Instructions
Keep at room temperature until processing.
Causes for Rejection
Gross hemolysis, clotted samples, non-EDTA tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Frozen | Indefinitely |