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Test ID 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

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide variants and deletions-insertions (delins) in 44 genes associated with hereditary forms of cardiac arrhythmias: ABCC9, ANK2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, DES, DSC2, DSG2, DSP, EMD, FLNC, GNB5, HCN4, JUP, KCND2, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN5A, SLC4A3, TECRL, TMEM43, TNNI3K, TRDN, and TTN. See Method Description for additional details.

 

Identification of a disease-causing variant may assist with familial risk assessment, screening, and genetic counseling for hereditary forms of cardiac arrhythmias.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS)

Reporting Name

Postmortem Arrhythmia Gene 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.

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
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

NY State Approved

Yes