MERRF Mutation Detection

DESCRIPTION – MERRF syndrome is a typically diagnosed by a combination of clinical features and RRF seen on muscle biopsy.

METHODOLOGY – polymerase chain reaction (PCR)

TURN AROUND TIME – 8 days

PATIENT PREPARATION –

COLLECT – lavender or buccal swabs

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

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 24 hours; refrigerated: 1 week

MRP – 9500.00

SPECIAL INSTRUCTIONS – clinical history is mandatory