Mitochondrial MutationsPanel-Comprehensive Covering All 16 Diseases

DESCRIPTION – mitochondrial mutation is 37 mtDNA gene panel with extremely high sequencing coverage. It is ideal for patients who have a suspicion of mitochondrial disease and have been tested negative using a targeted nuclear gene panel or whole exome test that did not cover mitochondrial DNA at the time of testing

METHODOLOGY – polymerase chain reaction (PCR)

TURN AROUND TIME – 8 days

PATIENT PREPARATION –

COLLECT – lavender (EDTA) or buccal swabs

SPECIMEN PREPARATION – transport 3 ml whole blood or 2 buccal swabs

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 24 hours; refrigerator: 1 week

MRP – 34500

SPECIAL INSTRUCTIONS – clinical history is mandatory