Andersen-Tawil syndrome other diagnostic studies: Difference between revisions

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Revision as of 15:25, 17 February 2020

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

@@ Line 4: / Line 4: @@
 ==Other Diagnostic Studies==
-===Molecular Genetic Testing===
-{| 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.
-===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==
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-[[CME Category::Cardiology]]
+<br />
 [[Category:Electrophysiology]]