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HelpTest Code PMARG Postmortem Arrhythmia Gene Panel, Tissue
Ordering Guidance
This test is intended for use when whole blood is not available and formalin-fixed, paraffin-embedded (FFPE) tissue is the only available specimen. If whole blood is available, consider CARGG / Comprehensive Arrhythmia Gene Panel, Varies
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Specimen Required
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block
Additional Information: Testing will be attempted on blocks of any age but may be canceled if adequate DNA concentration cannot be obtained.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
-Informed Consent for Genetic Testing for Deceased Individuals (T782)
2. Hereditary Cardiomyopathies and Arrhythmias Patient Information (T725)
Useful For
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of cardiac arrhythmia
Identifying a disease-causing variant in the decedent, which may assist with risk assessment and predictive testing of at-risk family members
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS)
Reporting Name
Postmortem Arrhythmia Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(4) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Schwartz PJ, Ackerman MJ, Antzelevitch C, et al. Inherited cardiac arrhythmias. Nat Rev Dis Primers. 2020;6(1):58. doi:10.1038/s41572-020-0188-7
2. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 2011;8(8):1308-1339. doi:10.1016/j.hrthm.2011.05.020
3. Bonne G, Leturcq F, Ben Yaou R. Emery-Dreifuss muscular dystrophy. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2004. Updated August 15, 2019. Accessed August 30, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1436/
4. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17(5):405-424.
5. Fishman GI, Chugh SS, DiMarco JP, et al. Sudden cardiac death prediction and prevention: report from the National Heart, Lung and Blood Institute and Heart Rhythm Society Workshop. Circulation. 2010;122(22):2335-2348
6. Semsarian C, Ingles J. Molecular autopsy in victims of inherited arrhythmias. J Arrhythm. 2016;32(5):359-365
7. Stattin EL, Westin IM, Cederquist K, et al. Genetic screening in sudden cardiac death in the young can save future lives. Int J Legal Med. 2016;130(1):59-66
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81439
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PMARG | Postmortem Arrhythmia Gene Panel | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 620583 | Test Description | 62364-5 |
| 620584 | Specimen | 31208-2 |
| 620585 | Source | 31208-2 |
| 620586 | Result Summary | 50397-9 |
| 620587 | Result | 82939-0 |
| 620588 | Interpretation | 69047-9 |
| 620589 | Additional Results | 82939-0 |
| 620590 | Resources | 99622-3 |
| 620591 | Additional Information | 48767-8 |
| 620592 | Method | 85069-3 |
| 620593 | Genes Analyzed | 82939-0 |
| 620594 | Disclaimer | 62364-5 |
| 620595 | Released By | 18771-6 |