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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 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 Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel

Test description

The Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel includes genes that are definitively associated with dilated cardiomyopathy (DCM), left ventricular noncompaction (LVNC), or with other inherited cardiomyopathy disorders that may present with clinical features similar to DCM or LVNC. DCM is defined by the presence of unexplained left ventricular dilation and/or dysfunction and can cause chest pain, heart failure, arrhythmia or stroke. LVNC is characterized by a spongy (noncompacted) appearance to the left ventricular and prominent trabeculations that can be associated with arrhythmia and/or heart failure.

Individuals with clinical symptoms of DCM or LVNC 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 or LVNC and guide medical management. This panel evaluates for syndromic conditions that can mimic DCM or LVNC. Individuals with apparently isolated DCM or LVNC may be identified to have a multi-system disorder with left ventricular dilation as the presenting feature.

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Primary panel (54 genes)

ABCC9 ACADVL ACTC1 ACTN2 ALMS1 ALPK3 BAG3 CPT2 CRYAB CSRP3 DES DMD DNAJC19 DOLK DSC2 DSG2 DSP EMD EYA4 FKRP FKTN FLNC HCN4 JUP LAMP2 LMNA MYBPC3 MYH7 MYLK3 PCCA PCCB PKP2 PLN PPCS RAF1 RBM20 RYR2 SCN5A SDHA SGCD SLC22A5 TAZ TBX20 TCAP TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TTN TTR VCL

Add-on Preliminary-evidence Genes for Dilated Cardiomyopathy and Left Ventricular Noncompaction (26 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 CAV3 CHRM2 CTF1 DTNA FHL2 GATA4 GATA6 GATAD1 HAND1 ILK LAMA4 LDB3 LRRC10 MED12 MYH6 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 TMPO TXNRD2

  • Alström syndrome
  • Arrhythmogenic cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Barth syndrome
  • Carvajal syndrome
  • Congenital disorder of glycosylation DOLK-CDG (CDG-Im)
  • Danon disease
  • Dilated cardiomyopathy (DCM)
  • Dystrophinopathy
  • Dystrophy-dystroglycanopathy types A4, B4, C4, A5, B5 and C5
  • Emery-Dreifuss muscular dystrophy
  • Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis)
  • Left ventricular noncompaction (LVNC)
  • Limb-girdle muscular dystrophy type 2F
  • Naxos disease
  • Primary carnitine deficiency
  • Propionic acidemia
  • SDHA-related mitochondrial complex II deficiency

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

DCM, LVNC, hereditary transthyretin-mediated amyloidosis and other inherited cardiomyopathies are autosomal dominant disorders. Alstrom syndrome, Naxos disease, Carvajal syndrome, congenital disorder of glycosylation DOLK-CDG (CDG-Im), dystrophy-dystroglycanopathy (types A4, B4, C4, A5, B5 and C5), limb-girdle muscular dystrophy type 2F, primary carnitine deficiency, propionic acidemia, and SDHA-related mitochondrial complex II deficiency are autosomal recessive conditions. Dystrophinopathy, Emery-Dreifuss muscular dystrophy, Danon disease, and Barth syndrome are X-linked conditions.

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. In addition, the analysis covers the select non-coding variants specifically defined in the table below. 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
ABCC9 NM_005691.3
ACADVL NM_000018.3
ACTC1 NM_005159.4
ACTN2 NM_001103.3
ALMS1 NM_015120.4
ALPK3 NM_020778.4
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
DTNA NM_001390.4
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
HAND1 NM_004821.2
HCN4 NM_005477.2
ILK NM_004517.3
JUP NM_002230.2
LAMA4 NM_002290.4
LAMP2 NM_002294.2
LDB3 NM_001080116.1; NM_001171610.1,NM_007078.3
LMNA NM_170707.3
LRRC10 NM_201550.3
MED12 NM_005120.2
MYBPC3* NM_000256.3
MYH6 NM_002471.3
MYH7 NM_000257.3
MYLK3 NM_182493.2
MYPN NM_032578.3
NEBL NM_006393.2
NEXN NM_144573.3
NKX2-5 NM_004387.3
NPPA NM_006172.3
PCCA NM_000282.3
PCCB NM_000532.4
PDLIM3 NM_014476.5
PKP2 NM_004572.3
PLEKHM2 NM_015164.2
PLN NM_002667.3
PPCS NM_024664.3
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
TBX20 NM_001077653.2
TCAP NM_003673.3
TMEM43 NM_024334.2
TMEM70 NM_017866.5
TMPO NM_003276.2
TNNC1 NM_003280.2
TNNI3 NM_000363.4
TNNI3K NM_015978.2
TNNT2 NM_001001430.2
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 3-4.
CTF1: Deletion/duplication and sequencing analysis is not offered for exon 1.
DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T (also known as NM_001079802.1:c.648-1243G>T) and the ~3 kb retrotransposon insertion in the 3' UTR at position NM_001079802‚Äã.1:c.*4392_*4393.
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.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
PRDM16: Deletion/duplication analysis is not offered for exon 1.
SDHA: Deletion/duplication analysis is not offered for this gene and sequencing analysis is not offered for exon 14. Sequencing analysis for exons 6-8 includes only cds +/- 10 bp.
TTN: Exons 45-46, 147, 149, 158-201, 212-216 (NM_001267550.2) are excluded from analysis. TTN variants are reported 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, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).