Combined Cardiac Panel
Use
This test is used for molecular confirmation of a clinical diagnosis in symptomatic patients, risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia, differentiation of hereditary cardiomyopathy/arrhythmia from acquired forms, and calculation of recurrence risk.
Special Instructions
Complete a requisition is required. Use lavender-top (EDTA) tube, invert 8‑10 times, do not spin or freeze; adults draw 5 mL, children 4 mL, infants 2 mL. Send at room temperature, Monday–Friday to IUHPL Sendout. Samples may be refrigerated up to 7 days prior to shipping.
Limitations
Technical sensitivity for single-nucleotide variants is >99%. The test does not reliably detect deletions >20 bp, insertions or rearrangements >10 bp, or low-level mosaicism. Copy number variant detection cannot detect CNVs <500 bp or mosaicism; exon‑level deletions/duplications depend on sequence context. There are gene‑specific coverage limitations for CACNA1C (exons 1‑42 only), AKAP9 (KCNQ1‑binding domains only), TTN (exons 1‑171 and 199‑363 only), and PKP6 (exon 6 not sequenced). Reportable variants include pathogenic, likely pathogenic, and VUS per ACMG/AMP guidelines; likely benign and benign variants available on request.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL (adults); 4 mL (children); 2 mL (infants)
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube
Collection Instructions
Invert tube 8‑10 times to mix blood with anticoagulant; do not spin or freeze
Storage Instructions
Room temperature shipping; may refrigerate up to 7 days prior to shipping
Causes for Rejection
Spun or frozen samples; serum
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | Up to 7 days |