As a multisystem disorder, the Andersen-Tawil syndrome (ATS) is a special case in the family of channelopathies. The disease’s complete spectrum is characterized by ventricular arrhythmias, dysmorphic changes and periodical paralysis. Patients may present with various symptoms, which makes clinical diagnosis extremely difficult. Variants in the KCNJ2 gene have been found in 50-60% of cases. The MHI Molecular Diagnostic Laboratory reports this gene only for the ATS profile.
PMID: 21787999, 2011
PMID: 21459272, 2011
PMID: 20306271, 2010
Tested Genes :
| 1st intent | 2nd intent | 3rd intent |
|---|---|---|
| KCNJ2 | None | None |