Friedreich Ataxia Mutation AnalysisGAA Repeats, Autosomal Recessive Ataxia

DESCRIPTION – Friedreich ataxia is an autosomal recessive inherited neurodegenerative disease, caused due to expansion of the intronic GAA trinucleotide repeats or mutations in the FXN gene on chromosome 9q13

METHODOLOGY – real time polymerase chain reaction (real time PCR)

TURN AROUND TIME – 8 days

PATIENT PREPARATION –

COLLECT – lavender (EDTA), pink (potassium EDTA) or yellow (ACD solution A or B)

SPECIMEN PREPARATION – transport 3 ml whole blood

STORAGE/TRANSPORT TEMPERATURE – room temperature or refrigerated

STABILITY – ambient: 1 week; refrigerated: 1 month

MRP – 5000.00

SPECIAL INSTRUCTIONS – clinical history is mandatory