Andersen-Tawil syndrome other diagnostic studies: Difference between revisions

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{{Andersen-Tawil syndrome}}
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{{CMG}}; {{AE}} {{RT}}
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==Other Diagnostic Studies==
==Overview==
===Molecular Genetic Testing===
There are no other diagnostic studies associated with  [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]).
{| class="wikitable" border="2"
|-style="background:silver; color:black" align="center"
| '''Gene''' || '''Testing Method''' || '''Detected Mutations'''
|-style="background:white; color:black"
| [[KCNJ2]] || Sequence analysis || Sequence variants
|-style="background:white; color:black"
| KCNJ2 || Mutation scanning || Sequence variants
|-style="background:white; color:black"
| KCNJ2 || Deletion / duplication analysis || Partial- or whole-gene deletions / duplications
|}


Molecular genetic testing has been shown to confirm the diagnosis in 60% of the cases.
== Other Diagnostic Studies ==
 
* There are no other diagnostic studies associated with  [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]).


===Long Exercise Protocol===
Long exercise protocol is a nerve conduction physiologic study used in the evaluation of Andersen-Tawil syndrome. This test may reveal an immediate post-exercise increment followed by an abnormal decrement in the compound motor [[action potential]] amplitude (>40%) or area (>50%) 20-40 minutes post-exercise.


==References==
==References==
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[[CME Category::Cardiology]]
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[[Category:Electrophysiology]]
[[Category:Electrophysiology]]
[[Category:Disease]]
[[Category:Rare Disease]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Cardiology]]
[[Category:Cardiology]]
[[Category:Needs overview]]

Latest revision as of 15:27, 17 February 2020

Andersen-Tawil syndrome Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

There are no other diagnostic studies associated with Andersen-Tawil syndrome (ATS).

Other Diagnostic Studies


References


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