Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication
Also known as: CARDIACPAN
Use
This test is used for assessing hereditary forms of cardiomyopathy or arrhythmia. Inherited cardiomyopathy and arrhythmia disorders are genetically and phenotypically heterogeneous, with associated phenotypes such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), left ventricular noncompaction (LVNC), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), long QT syndrome (LQTS), and short QT syndrome (SQTS). Pathogenic germline variants in genes associated with these conditions often involve nuclear genes encoding sarcomeric or desmosomal proteins, cardiac ion channel components, cytoskeletal proteins, or the mitochondrial genome.
Special Instructions
Informed consent for genetic testing is required, especially for patients in New York. Genetic counseling is recommended for genetic testing, with consent forms available online. Specimens from New York clients will be sent to a New York state-approved laboratory.
Limitations
A negative result does not exclude a heritable form of cardiomyopathy or arrhythmia. Variants within non-coding regions or deep intronic regions, small insertions, deletions/duplications, low-level mosaic or somatic variants, and other complex genetic abnormalities may not be detected. Diagnostics errors can occur due to rare sequence variations or technical limitations such as pseudogenes, repetitive, or homologous regions. This test is not intended to detect duplications of two or fewer exons in size, repeat expansions, or mitochondrial DNA mutations.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 31208-2
- 41103-3
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
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