Choose Test:
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| Test: | Mitochondrial DNA, Southern Blot |
| Comments: | Mutations in mitochondrial DNA give rise to various syndromes including lactic acidemia and encephalomyopathy, with maternal inheritance and remarkable variation in penetrance and expressivity. We perform a Southern blot analysis to detect deletions, duplications and rearrangements in the mitochondrial genome. Our Southern blot methodology, using two restriction enzymes, achieves higher resolution than other methods. |
| Specimen type: | Blood, Muscle |
| Sample Requirements: | Blood, 5-9 mL (in purple (EDTA), or yellow-top (ACD) tube). Blood must be kept in sealed original tubes at room temperature (NOT FROZEN) and sent at room temperature by overnight carrier. Muscle, 0.1-0.25 gram fresh frozen, sent frozen on dry ice by overnight carrier. |
| Turnaround time: | 4-6 weeks. |
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