Hypertrophic cardiomyopathy (HCM) panel | NGS

Genes SequencedCORE: 28 genes sequenced: ACADVL, ACTC1, ACTN2, AGL, ALPK3, BAG3, CSRP3, DES, ELAC2, FHL1, FLNC, GAA, GLA, JPH2, LAMP2, MTO1, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1 and TTR.

EXPANDED: 42 genes sequenced: ACADVL, ACTC1, ACTN2, AGL, ALPK3, ANKRD1, BAG3, CALR3, CAV3, CSRP3, DES, ELAC2, FHL1, FLNC, GAA, GATA4, GLA, JPH2, KLF10, LAMP2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, PDLIM3, PLN, PRKAG2, RYR2, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63 and TTR.
Test DetailsCore gene panels are comprised of genes established as causal for the relevant clinical condition. Expanded gene panels include all genes found in the core panel plus additional genes of uncertain significance that are implicated as candidate genes for the condition.

***Please note that when a CORE panel is ordered, only the core panel genes will be analyzed and reported. When an EXPANDED panel is ordered, the core panel genes will be analyzed first for clinically significant variation. If no molecular diagnosis is made, the analysis will then extend to the expanded gene set, which includes genes of uncertain significance that have been implicated in the relevant conditions

DNA extraction, exome capture and sequencing on the Illumina platform. Identified variants are classified using ACMG/AMP and ClinGen guidelines.
MethodologyNext-generation sequencing
PerformedMonday – Friday
Turnaround3 – 4 weeks
Specimen RequirementsPeripheral blood or Buccal swabs
Sample Collection1 EDTA (lavender top) tube containing 2-5 mL peripheral blood or 2 Buccal swabs
Minimum Sample Volume1 ml; 1 swab
Storage/Transport ConditionsAmbient / room temperature unless delivery will exceed four hours, then refrigerated temperature is preferred.
Unacceptable ConditionsFrozen specimens, clotted or hemolyzed specimens, inappropriate tube type
CPT Code(s)81479 (Core panel); 81479 (Expanded panel)