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  • Test code: 02263
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Arrhythmogenic Cardiomyopathy Panel

Test description

The Invitae Arrhythmogenic Cardiomyopathy Panel provides a comprehensive analysis of the genes associated with inherited cardiomyopathy conditions that have a prominent arrhythmia phenotype or that may present with arrhythmia prior to the development of cardiomyopathy. Given the clinical overlap between different arrhythmogenic cardiomyopathy conditions, comprehensive testing enables a more efficient evaluation of multiple conditions based on a single indication for testing.

Individuals with clinical symptoms of arrhythmogenic cardiomyopathy may benefit from diagnostic genetic testing to establish or confirm diagnosis, clarify risks, or inform management. Asymptomatic individuals within a family with a known pathogenic variant may also benefit by avoiding activities and medications that can trigger symptoms.

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Primary panel (22 genes)

ACTN2 BAG3 CDH2 DES DSC2 DSG2 DSP EMD FLNC JUP LMNA PKP2 PLN PPA2 PRKAG2 RBM20 RYR2 SCN5A TMEM43 TNNI3 TNNT2 TTN

Add-on Preliminary-evidence Genes for Arrhythmogenic Cardiomyopathy (5 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.

ANKRD1 CTNNA3 LDB3 NKX2-5 PDLIM3

  • Arrhythmogenic cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Carvajal syndrome
  • Emery-Dreifuss muscular dystrophy (EDMD)
  • Naxos disease
  • Wolff-Parkinson-White syndrome (WPW)

To view the complete clinical description of this panel, click here.

ARVC is most commonly inherited as an autosomal dominant disorder. Several studies have found compound heterozygosity or digenic inheritance in a significant proportion of individuals with ARVC.

ARVC due to Naxos disease or Carvajal syndrome is autosomal recessive. EMD-related Emery-Dreifuss muscular dystrophy is an X-linked disorder.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACTN2* NM_001103.3
ANKRD1* NM_014391.2
BAG3 NM_004281.3
CDH2 NM_001792.4
CTNNA3 NM_013266.3
DES NM_001927.3
DSC2 NM_024422.4
DSG2 NM_001943.3
DSP NM_004415.2
EMD NM_000117.2
FLNC* NM_001458.4
JUP NM_002230.2
LDB3 NM_001080116.1; NM_001171610.1,NM_007078.3
LMNA NM_170707.3
NKX2-5 NM_004387.3
PDLIM3 NM_014476.5
PKP2 NM_004572.3
PLN NM_002667.3
PPA2 NM_176869.2
PRKAG2 NM_016203.3
RBM20 NM_001134363.2
RYR2 NM_001035.2
SCN5A NM_198056.2
TMEM43 NM_024334.2
TNNI3 NM_000363.4
TNNT2 NM_001001430.2
TTN* NM_001267550.2

ACTN2: Deletion/duplication analysis is not offered for exon 9.
ANKRD1: Deletion/duplication analysis is not offered for exons 3-4. Sequencing analysis for exons 4 includes only cds +/- 10 bp.
FLNC: Deletion/duplication analysis is not offered for exon 47. Sensitivity and specificity for single nucleotide variants, insertions and deletions in exons 47-48 may be reduced due to the presence of segmental duplications overlapping the region.
TTN: Exons 45-46, 147, 149, 164, 172-201 (NM_001267550.2) are excluded from analysis. TTN variants are included in the primary report based on functional effect and/or location. A complete list of variants of uncertain significance, likely benign and benign variants in TTN is available upon request. Variants are named relative to the NM_001267550.2 (meta) transcript. Variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) and fetal isoforms are reported (PMID: 25589632, 29598826, 29691892, 31660661), with the exception of the PEVK tandem repeat region (172-198) (PMID: 28040389).