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Test Code PMCMG Postmortem Cardiomyopathy 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 CCMGG / Comprehensive Cardiomyopathy 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 attributed to cardiomyopathy or with a personal or family history suggestive of a hereditary form of cardiomyopathy

 

Identifying a disease-causing variant in the decedent, which may assist with risk assessment and predictive testing of at-risk family members

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS)

Reporting Name

Postmortem Cardiomyopathy Panel

Specimen Type

Varies

Specimen 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.(6) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Hershberger RE, Givertz MM, Ho CY, et al: Genetic evaluation of cardiomyopathy-a heart failure society of America practice guideline. J Card Fail. 2018;24(5):281-302. doi:10.1016/j.cardfail.2018.03.004

2. Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: Executive Summary: a report of the American College of Cardiology/American Heart Association Joint Committee on clinical practice guidelines. Circulation. 2020;142(25):e533-e557. doi:10.1161/CIR.0000000000000938

3. Bozkurt B, Colvin M, Cook J, et al. Current diagnostic and treatment strategies for specific dilated cardiomyopathies: a scientific statement from the American Heart Association [published correction appears in Circulation. 2016 Dec 6;134(23 ):e652]. Circulation. 2016;134(23):e579-e646. doi:10.1161/CIR.0000000000000455

4. Aung N, Doimo S, Ricci F, et al. Prognostic significance of left ventricular noncompaction: Systematic review and meta-analysis of observational studies. Circ Cardiovasc Imaging. 2020;13(1):e009712. doi:10.1161/CIRCIMAGING.119.009712

5. Corrado D, Link MS, Calkins H: Arrhythmogenic right ventricular cardiomyopathy. N Engl J Med. 2017;376(1):61-72. doi:10.1056/NEJMra1509267

6. 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. doi:10.1038/gim.2015.30

7. 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

8. 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 days

Performing 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
PMCMG Postmortem Cardiomyopathy Panel In Process

 

Result ID Test Result Name Result LOINC Value
620611 Test Description 62364-5
620612 Specimen 31208-2
620613 Source 31208-2
620614 Result Summary 50397-9
620615 Result 82939-0
620616 Interpretation 69047-9
620617 Additional Results 82939-0
620618 Resources 99622-3
620619 Additional Information 48767-8
620620 Method 85069-3
620621 Genes Analyzed 82939-0
620622 Disclaimer 62364-5
620623 Released By 18771-6