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  • Test code: 02251
  • 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 Cardiomyopathy Comprehensive Panel

Test description

This test provides a comprehensive analysis of the genes associated with inherited cardiomyopathy conditions. Given the clinical overlap between different cardiomyopathy conditions, comprehensive testing enables a more efficient evaluation of multiple conditions based on a single indication.

Individuals with clinical symptoms of an inherited 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 (82 genes)

ABCC9 ACADVL ACTC1 ACTN2 AGL ALMS1 ALPK3 BAG3 BRAF CACNA1C CBL CPT2 CRYAB CSRP3 DES DMD DNAJC19 DOLK DSC2 DSG2 DSP ELAC2 EMD EYA4 FHL1 FKRP FKTN FLNC GAA GLA HCN4 HRAS JUP KRAS LAMP2 LMNA LZTR1 MAP2K1 MAP2K2 MRAS MTO1 MYBPC3 MYH7 MYL2 MYL3 MYLK3 NF1 NRAS PCCA PCCB PKP2 PLN PPCS PPP1CB PRKAG2 PTPN11 RAF1 RASA1 RBM20 RIT1 RYR2 SCN5A SDHA SGCD SHOC2 SLC22A5 SOS1 SOS2 SPRED1 TAZ TBX20 TCAP TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TTN TTR VCL

Add-on Preliminary-evidence Genes for Cardiomyopathy (39 genes)

Analyzes genes that are associated with cardiomyopathy, a broad group of conditions characterized by an enlarged, stiff or weakened heart muscle.

A2ML1 ANKRD1 CALR3 CAV3 CDH2 CHRM2 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 HAND1 ILK JPH2 KIF20A KLF10 LAMA4 LDB3 LRRC10 MAP3K8 MED12 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 RASA2 RRAS TMPO TXNRD2

  • Alström syndrome
  • Arrhythmogenic cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Barth syndrome
  • Carnitine palmitoyltransferase II (CPTII or CPT2) deficiency
  • Carvajal syndrome
  • Combined oxidative phosphorylation deficiency (COXPD)
  • 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
  • Fabry disease
  • Glycogen storage disease type II (GSDII), also known as Pompe disease
  • Glycogen storage disease, type III (GSD III)
  • Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis)
  • Hypertrophic cardiomyopathy (HCM)
  • Left ventricular noncompaction (LVNC)
  • Limb-girdle muscular dystrophy type 2F
  • Naxos disease
  • Noonan-spectrum disorders
  • Primary carnitine deficiency
  • Propionic acidemia
  • Restrictive cardiomyopathy (RCM)
  • SDHA-related mitochondrial complex II deficiency
  • Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency
  • Wolff-Parkinson-White syndrome (WPW)

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

Most forms of isolated cardiomyopathy and cardiomyopathy due to an underlying Noonan-spectrum condition are autosomal dominant. Barth syndrome, Danon disease, dystrophinopathy, Emery-Dreifuss muscular dystrophy, Fabry disease are X-linked 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), glycogen storage disease type III, ELAC2-related and MTO1-related combined oxidative phosphorylation deficiency, limb-girdle muscular dystrophy type 2F, primary carnitine deficiency, Pompe disease, 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
A2ML1 NM_144670.4
ABCC9 NM_005691.3
ACADVL NM_000018.3
ACTC1 NM_005159.4
ACTN2 NM_001103.3
AGL NM_000642.2
ALMS1 NM_015120.4
ALPK3 NM_020778.4
ANKRD1* NM_014391.2
BAG3 NM_004281.3
BRAF NM_004333.4
CACNA1C NM_000719.6; NM_001129840.1
CALR3 NM_145046.4
CAV3 NM_033337.2
CBL NM_005188.3
CDH2 NM_001792.4
CHRM2 NM_000739.2
CPT2 NM_000098.2
CRYAB NM_001885.2
CSRP3 NM_003476.4
CTF1* NM_001330.3
CTNNA3 NM_013266.3
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
ELAC2 NM_018127.6
EMD NM_000117.2
EYA4 NM_004100.4
FHL1 NM_001449.4
FHL2 NM_201555.1
FKRP NM_024301.4
FKTN* NM_001079802.1
FLNC* NM_001458.4
GAA* NM_000152.3
GATA4 NM_002052.3
GATA6 NM_005257.5
GATAD1 NM_021167.4
GLA* NM_000169.2
HAND1 NM_004821.2
HCN4 NM_005477.2
HRAS NM_005343.2
ILK NM_004517.3
JPH2 NM_020433.4
JUP NM_002230.2
KIF20A NM_005733.2
KLF10 NM_005655.3
KRAS NM_004985.4
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
LZTR1 NM_006767.3
MAP2K1 NM_002755.3
MAP2K2 NM_030662.3
MAP3K8 NM_005204.3
MED12 NM_005120.2
MRAS NM_012219.4
MTO1 NM_012123.3
MYBPC3* NM_000256.3
MYH6 NM_002471.3
MYH7 NM_000257.3
MYL2 NM_000432.3
MYL3 NM_000258.2
MYLK2 NM_033118.3
MYLK3 NM_182493.2
MYOM1 NM_003803.3
MYOZ2 NM_016599.4
MYPN NM_032578.3
NEBL NM_006393.2
NEXN NM_144573.3
NF1* NM_000267.3
NKX2-5 NM_004387.3
NPPA NM_006172.3
NRAS NM_002524.4
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
PPP1CB NM_206876.1
PRDM16* NM_022114.3
PRKAG2 NM_016203.3
PTPN11 NM_002834.3
RAF1 NM_002880.3
RASA1 NM_002890.2
RASA2 NM_006506.3
RBM20 NM_001134363.2
RIT1 NM_006912.5
RRAS NM_006270.4
RYR2 NM_001035.2
SCN5A NM_198056.2
SDHA* NM_004168.3
SGCD NM_000337.5
SHOC2 NM_007373.3
SLC22A5 NM_003060.3
SOS1 NM_005633.3
SOS2 NM_006939.2
SPRED1 NM_152594.2
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.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
NF1: Sequencing analysis for exons 2, 7, 25, 41, 48 includes only cds +/- 10 bp.
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).