Postmortem Arrhythmia Gene Panel, Tissue
Use
This test provides a comprehensive postmortem genetic evaluation in cases of sudden death suspicious for cardiac arrhythmia. It helps identify disease-causing variants in the decedent, facilitating risk assessment and predictive testing of at-risk family members. The test targets 44 genes associated with hereditary cardiac arrhythmias and supports genetic counseling for these conditions.
Special Instructions
This test is intended for use when whole blood is not available and formalin-fixed, paraffin-embedded (FFPE) tissue is the only available specimen. Informed consent is required for New York clients. Forms, including informed consent and test request documents, should be submitted alongside the specimen.
Limitations
Next-generation sequencing may not detect all genomic variants, especially in gene regions with homology, high GC content, or repetitive sequences. Large deletions-insertions and regions causing technical limitations may result in false negatives. Confirmation by Sanger sequencing is not performed. The test doesn't differentiate somatic from germline variants and doesn't detect low-level mosaicism. Target regions not meeting criteria will be noted. Detection of mitochondrial inheritance patterns is not included in this test.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 18771-6
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Tissue block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |
