GeneDx proudly announces our new genetic testing services for inherited cardiac disorders, with our launch of complete gene sequence analysis for a large panel of genes associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and long QT syndrome (LQTS) . Using next-generation sequence analysis, we are able to sequence several genes simultaneously, gaining increased efficiency without the loss of technical sensitivity, thereby shortening test turn-around times and decreasing patient cost. GeneDx offers a 17-gene panel for hypertrophic cardiomyopathy, a 23-gene panel for dilated cardiomyopathy and a 10-gene panel for LQTS. 

 

Hypertrophic cardiomyopathy (HCM) is the most common of the genetic cardiovascular diseases as it affects 1 in 500 individuals. HCM is transmitted primarily as an autosomal dominant trait, affecting males and females equally. HCM is clinically characterized by a hypertrophied non-dilated left ventricle with thickened wall/septum),in the absence of another cardiac or systemic disease. Our HCM panel consists of complete sequence analysis of the coding region, including the exon/intron boundaries of the following 17 genes: MYH7, MYBPC3, TNNT2, TNNI3, TPM1, ACTC1, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR and TNNC1.

 

Dilated cardiomyopathy (DCM) is the most common form of cardiomyopathy, accounting for one third of cases. DCM is characterized by dilation and impaired contraction of one or both ventricles. Patients have impaired systolic function (e.g., a reduced ejection fraction) and may or may not develop overt heart failure. DCM is predominantly transmitted as autosomal dominant trait. GeneDx offers a DCM panel consisting of complete sequence analysis of the coding region, including the exon/intron boundaries of the following 23 genes: MYH7, MYBPC3, LMNA, TNNT2, TPM1, ACTC1, TNNI3, ZASP, TAZ, PLN, TTR, LAMP2, SGCD, DES, MTTL1, MTTQ, MTTH, MTTK, MTTS1, MTTS2, MTND1, MTND5, and MTND6.

Long QT syndrome (LQTS) is a genetic heart disorder due to malfunction of cardiac ion channels, resulting in 4,000 deaths annually in the United States (Vincent GM 1998). LQTS has an estimated prevalence of at least 1 in 3,000 and occurs in all ethnicities GeneDx offers 10-gene panel that includes the following genes: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3 and SCN4B