4 - 8 weeks
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.