Kennedy disease (CAG repeats)

DESCRIPTION – kennedy’s disease is a rare inherited neuromuscular disorder that causes progressive weakening and wasting of the muscles, particularly the arms and legs. Other major symptoms include severe cramps and problems with speech and swallowing. The disease progresses slowly, and life expectancy is usually normal.

METHODOLOGY – polymerase chain reaction (PCR)

TURN AROUND TIME – 14-28 days

SPECIMEN REQUIERED –

COLLECT – green (sodium heparin), lavender (EDTA)

SPECIMEN PREPARATION – transport 6 ml whole blood

STORAGE/TRANSPORT TEMPERATURE – room temperature or refrigerated

STABILITY – ambient: 10 days; refrigerated: 10 days

SPECIAL INSTRUCTIONS – clinical history is mandatory