Andersen-Tawil syndrome other diagnostic studies: Difference between revisions
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| KCNJ2 || Deletion / duplication analysis || Partial- or whole-gene deletions / duplications | | KCNJ2 || Deletion / duplication analysis || Partial- or whole-gene deletions / duplications | ||
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Molecular genetic testing has been shown to confirm the diagnosis in 60% of the cases. | |||
===Long Exercise Protocol=== | ===Long Exercise Protocol=== | ||
Revision as of 03:44, 4 March 2013
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Andersen-Tawil syndrome Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Other Diagnostic Studies
Molecular Genetic Testing
| Gene | Testing Method | Detected Mutations |
| KCNJ2 | Sequence analysis | Sequence variants |
| KCNJ2 | Mutation scanning | Sequence variants |
| 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.