Approximately 150 exons of the 17 genes including their splice junctions are sequenced using a novel solid-state sequencing-by-synthesis process that allows sequencing a large number of amplicons in parallel. For analysis, DNA sequence is assembled and compared to the published genomic reference sequences. The presence of any potentially disease-associated sequence variant(s) is confirmed by conventional dideoxy DNA sequence analysis.
Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous condition and to date, mutations in 17 genes have most commonly been identified in adult HCM patients: MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3,
MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TNNC1 and TTR.
Approximately 60%-70% of individuals with a clinical diagnosis of HCM are expected to harbor a disease-causing
mutation in one or more of the genes tested in this panel. The technical sensitivity of this test is estimated to be 98%.
4 - 8 weeks
Test sent to GeneDx.