Friedreich's ataxia diagnostic study of choice
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]
Overview
Diagnostic Study of Choice
Study of choice
Triplet Repeat Primed PCR (TP PCR) is the gold standard test for the diagnosis of Friedreich’s Ataxia.
Diagnostic results
The following finding on performing genetic testing is confirmatory for Friedreich’s Ataxia:
- GAA trinucleotide repeat in the first intron of the frataxin gene on chromosome 9q13.
Sequence of Diagnostic Studies
The TP PCR must be performed when:
- The patient presented with symptoms of Friedreich’s Ataxia.
- History of neuromuscular disorders in a family because the Friedreich’s Ataxia is an autosomal recessive disease and some heterozygous traits may be asymptomatic.