Friedreich's ataxia diagnostic study of choice: Difference between revisions
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== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
===Study of choice=== | ===Study of choice=== | ||
Triplet Repeat Primed PCR (TP PCR) is the gold standard test for the diagnosis of Friedreich’s Ataxia. | Triplet Repeat Primed [[Polymerase chain reaction|PCR]] (TP PCR) is the gold standard test for the diagnosis of Friedreich’s Ataxia. | ||
=====Diagnostic results===== | =====Diagnostic results===== | ||
The following finding on performing genetic testing is confirmatory for Friedreich’s Ataxia: | The following finding on performing genetic testing is confirmatory for Friedreich’s Ataxia: | ||
*GAA [[trinucleotide repeat]] in the first [[intron]] of the [[Frataxin|frataxin gene]] on chromosome 9q13. | *GAA [[trinucleotide repeat]] in the first [[intron]] of the [[Frataxin|frataxin gene]] on chromosome 9q13. | ||
=====Sequence of Diagnostic Studies===== | =====Sequence of Diagnostic Studies===== | ||
The TP PCR must be performed when: | The TP [[PCR]] must be performed when: | ||
*The patient presented with symptoms of Friedreich’s Ataxia. | *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 disorder|autosomal recessive disease]] and some [[heterozygous]] traits may be asymptomatic. | *History of [[neuromuscular]] disorders in a family because the Friedreich’s Ataxia is an [[Autosomal recessive disorder|autosomal recessive disease]] and some [[heterozygous]] traits may be asymptomatic. | ||
Revision as of 20:20, 21 June 2019
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.