A combination of oligonucleotide hybridization-based DNA sequencing using the Affymetrix GeneChip® platform and dideoxy-based DNA sequencing of the coding regions and splice sites of all genes.
Examines 11 genes known to cause hypertrophic cardiomyopathy (MYBPC3, MYH7, TNNT2, TNNI3, TPM1, ACTC, MYL2, MYL3, LAMP2, PRKAG2, GLA).
2 - 5 weeks
Collect specimen in a lavender top (EDTA) tube. Refrigerate and send intact specimen. Please specify known familial mutation to be tested.
Test sent to Harvard Medical School Partners HealthCare Center for Personalized Genetic Medicine (PCPGM).