Jervell and Lange-Nielsen Syndrome (KCNQ1) Targeted Testing

AKA: Surdo-Cardiac Syndrome
Short Name: KCNQ1 Targeted

Jervell and Lange-Nielson Syndrome is caused by a pathogenic variant in the KCNQ1 gene and is an autosomal recessive disorder. It is characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and high risk of sudden death. The variant c.451_452delCT (p.Leu151Glyfs) has been found in the Amish population and is responsible for this disorder. The c.451_452delCT variant is analyzed during this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 220400
MedGen: 5929