F0154
Freidreichs Ataxia mutation analysis
Test Details: Freidreichs Ataxia is an autosomal recessive neurodegenerative disorder associated with an unstable expansion of GAA trinucleotide repeats in the first intron of the frataxin gene on chromosome 9q13. Typical onset of the disease is between 10-25 years. Symptoms include depressed tendon reflexes, speech disturbance, muscle weakness and visual disturbance. This assay determines the accurate size of the triplet repeats.
Category
Molecular Genetics
Pre-test Information
Clinical details & history is mandatory.
Report Delivery
8 working days
Gender
All
Organ
Nervous System
Freidreichs Ataxia mutation analysis
5500
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