MM-Mutation Detection MitochondrialMyopathy

DESCRIPTION – mitochondrial myopathy is the muscle biopsy, which involves removing a small sample of muscle tissue to examine. When treated with a dye that stains mitochondria, muscles affected by mitochondrial disease often show ragged red fibers – muscle cells that have excessive mitochondria.

METHODOLOGY – polymerase chain reaction (PCR)

TURN AROUND TIME – 30 days

SPECIMEN REQUIERED –

COLLECT – lavender (EDTA) or buccal swabs

SPECIMEN PREPARATION – transport 5 ml whole blood or 2 buccal swabs

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 24 hours; refrigerated: 1 week

SPECIAL INSTRUCTIONS – clinical history is mandatory