Invitae Dilated Cardiomyopathy Panel

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  • Test code: 02262
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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Test description

This test is for individuals with a clinical diagnosis of dilated cardiomyopathy (DCM). The Invitae Dilated Cardiomyopathy Panel includes genes that are definitively associated with DCM or with other inherited cardiomyopathy disorders that may present with clinical features similar to DCM.

Individuals with clinical symptoms of DCM may benefit from diagnostic genetic testing to better understand risks, confirm a diagnosis, or inform management. Asymptomatic individuals who have a known familial pathogenic variant may also benefit, as testing may clarify their own personal risk of developing DCM and guide medical management.

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Primary panel (41 genes)

ABCC9 ACTC1 ACTN2 BAG3 CAV3 CRYAB CSRP3 DES DMD DOLK DSC2 DSG2 DSP EMD EYA4 FKRP FKTN FLNC JUP LAMP2 LMNA MYBPC3 MYH7 PKP2 PLN RAF1 RBM20 RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on Preliminary-evidence Genes for Dilated Cardiomyopathy (22 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. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1 CHRM2 CTF1 FHL2 GATA4 GATA6 GATAD1 ILK LAMA4 LDB3 LRRC10 MYH6 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 TMPO TXNRD2

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes (6 genes)

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder. Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. However, SDHA is most commonly associated with autosomal dominant predisposition to cancer.

ACADVL ALMS1 CPT2 DNAJC19 SDHA TMEM70

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

Alternative tests to consider

Dilated cardiomyopathy can also be ordered as part of broader panels to test for cardiomyopathy disorders. Depending on the individual’s family history, one of these broader panels may be appropriate. Any of these broader panels can be ordered at no additional charge.

  • arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • dilated cardiomyopathy (DCM)
  • dystrophinopathies
    • Becker muscular dystrophy (BMD)
    • Duchenne muscular dystrophy (DMD)
  • Emery-Dreifuss muscular dystrophy
  • Fabry disease
  • hypertrophic cardiomyopathy (HCM)
  • transthyretin amyloidosis
  • some of these genes on this panel are also associated with other disorders

Dilated cardiomyopathy (DCM) is a cardiac disorder that is characterized by left ventricular enlargement and systolic dysfunction, which reduce the myocardial force of contraction. Both left ventricular enlargement and ejection fraction, a percent measurement of the amount of blood that is pumped out of the ventricles with each contraction, are evaluated by echocardiogram. DCM is characterized by a presentation of heart failure with symptoms of congestion and/or reduced cardiac output, arrhythmias, conduction system disease, or thromboembolic disease (including stroke).

Other nongenetic causes of DCM include ischemic injury (e.g., coronary artery disease, prior myocardial infarction), congenital heart disease, toxin exposure, thyroid disease, inflammatory conditions, myocarditis, severe long-standing hypertension, radiation, and others.

This test covers all of the common genetic causes of DCM. DCM is caused by pathogenic variants in one of several genes primarily encoding cytoskeletal, musculoskeletal, mitochondrial, and calcium-handling proteins. Pathogenic variants in one of these genes are identified in 20%-40% of individuals with familial dilated cardiomyopathy.

DCM is inherited primarily as an autosomal dominant disorder. DCM due to Alstrom syndrome, Naxos disease, Carvajal syndrome, FKRP-related and FKTN-related muscular dystrophy, primary carnitine deficiency, DOLK-related congenital disorders of glycosylation, or SDHA-related combined oxidative phosphorylation deficiency is autosomal recessive. DCM due to Duchenne muscular dystrophy, Emery-Driefuss muscular dystrophy, Danon disease, or Barth syndrome exhibits X-linked inheritance.

DCM exhibits reduced penetrance, meaning that not everyone who inherits a predisposition to develop it will go on to manifest symptoms. DCM has a variable age of onset and can present from infancy to adulthood.

The prevalence of DCM is approximately 1 in 2,500 to 1 in 3,000 individuals.

This test may be considered for individuals with:

  • heart failure with symptoms of congestion and/or reduced cardiac output
  • arrhythmias and/or conduction system disease
  • thromboembolic disease, including stroke

For links to published management guidelines for cardiology conditions, please refer to our Management guidelines page.

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, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Assay notes

Please note that TTN has multiple transcripts. Testing and variant nomenclature for TTN is based on the transcript NM_001267550.2, which includes exons of TTN that are not expressed in the heart. The analysis and interpretation is performed using the clinically-relevant transcript, NM_133378.4, which includes the exons of TTN expressed in the heart.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ABCC9 NM_005691.3
ACADVL NM_000018.3
ACTC1 NM_005159.4
ACTN2 NM_001103.3
ALMS1 NM_015120.4
ANKRD1* NM_014391.2
BAG3 NM_004281.3
CAV3 NM_033337.2
CHRM2 NM_000739.2
CPT2 NM_000098.2
CRYAB NM_001885.2
CSRP3 NM_003476.4
CTF1 NM_001330.3
DES NM_001927.3
DMD* NM_004006.2
DNAJC19 NM_145261.3
DOLK NM_014908.3
DSC2 NM_024422.4
DSG2 NM_001943.3
DSP NM_004415.2
EMD NM_000117.2
EYA4 NM_004100.4
FHL2 NM_201555.1
FKRP NM_024301.4
FKTN* NM_001079802.1
FLNC NM_001458.4
GATA4 NM_002052.3
GATA6 NM_005257.5
GATAD1 NM_021167.4
ILK NM_004517.3
JUP NM_002230.2
LAMA4 NM_002290.4
LAMP2 NM_002294.2; NM_013995.2
LDB3 NM_001080116.1; NM_001171610.1; NM_007078.2
LMNA NM_170707.3; NM_005572.3
LRRC10 NM_201550.3
MYBPC3* NM_000256.3
MYH6 NM_002471.3
MYH7 NM_000257.3
MYPN NM_032578.3
NEBL NM_006393.2
NEXN NM_144573.3
NKX2-5 NM_004387.3; NM_004387.3
NPPA NM_006172.3
PDLIM3 NM_014476.5
PKP2 NM_004572.3
PLEKHM2 NM_015164.2
PLN NM_002667.3
PRDM16 NM_022114.3
RAF1 NM_002880.3
RBM20 NM_001134363.2
RYR2 NM_001035.2
SCN5A NM_198056.2
SDHA* NM_004168.3
SGCD NM_000337.5
SLC22A5 NM_003060.3
TAZ NM_000116.4
TCAP NM_003673.3
TMEM43 NM_024334.2
TMEM70 NM_017866.5
TMPO NM_003276.2
TNNC1 NM_003280.2
TNNI3 NM_000363.4
TNNT2 NM_001001430.2; NM_000364.3
TPM1 NM_001018005.1
TTN* NM_001267550.2
TTR NM_000371.3
TXNRD2 NM_006440.4
VCL NM_014000.2

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.
DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.
TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).