| Next Generation Sequencing | Deletion / Duplication | NGS & Del Dup Comprehensive |
|---|---|---|
Price: $1950
|
Price: $1750
|
Price: $3400
|
CPT: 81408
|
CPT: 81407
|
CPT: 81408
81407
|
Congenital long QT syndrome (LQTS) is a rare heart condition characterized by a prolonged QT interval on ECG/EKG and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death. Mutations in various genes encoding ion channels are associated with different forms of LQTS. LQTS can be inherited in both autosomal dominant and autosomal recessive patterns. Autosomal dominant forms may manifested with variable penetrance. The 17 gene Long QT syndrome NGS Panel includes the four most common genes associated with Long QT which account for up to 88% of all cases; KCNQ1, KCNH2, SCN5A and RYR2. The remainder of the genes on this panel are less common and account for less than 5% of all cases. We also offer targeted testing of the KCNQ1 gene for the variant found in the Old Order Amish population.
Type E
4 weeks or less