Long QT Syndromes panel | NGS
| Genes Sequenced | CORE 10 genes sequenced: CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2, KCNJ2, KCNQ1, SCN5A and TRDN. EXPANDED 16 genes sequenced: AKAP9, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 and TRDN. |
| Test Details | Core 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. aCGH send out testing for the KCNH2 and KCNQ1 genes is performed when NGS does not identify any pathogenic or likely pathogenic variants. |
| Methodology | Next-generation sequencing |
| Performed | Monday – Friday |
| Turnaround | 3 – 4 weeks |
| Specimen Requirements | Peripheral blood or Buccal swabs |
| Sample Collection | 1 EDTA (lavender top) tube containing 2-5 mL peripheral blood or 2 Buccal swabs |
| Minimum Sample Volume | 1 ml; 1 swab |
| Storage/Transport Conditions | Ambient / room temperature unless delivery will exceed four hours, then refrigerated temperature is preferred. |
| Unacceptable Conditions | Frozen specimens, clotted or hemolyzed specimens, inappropriate tube type |
| CPT Code(s) | 81479 x 2 (Core panel with aCGH send out); 81479 x 2 (Expanded panel with aCGH send out) |