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  • Test code: 02261
  • 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 Hypertrophic Cardiomyopathy Panel

Test description

The Invitae Hypertrophic Cardiomyopathy Panel includes genes that are definitively associated with hypertrophic cardiomyopathy (HCM) or with other inherited cardiomyopathy disorders that may present with clinical features similar to HCM. HCM is defined by the presence of unexplained left ventricular hypertrophy and can cause chest pain, heart failure, or cardiac arrest.

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

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Primary panel (30 genes)

ACADVL ACTC1 ACTN2 AGL ALPK3 BAG3 CACNA1C CPT2 CSRP3 DES ELAC2 FHL1 FLNC GAA GLA LAMP2 MTO1 MYBPC3 MYH7 MYL2 MYL3 PLN PRKAG2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL

Add-on Preliminary-evidence Genes for Hypertrophic Cardiomyopathy (14 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 CALR3 CAV3 GATA4 JPH2 KLF10 LDB3 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEXN PDLIM3

  • Carnitine palmitoyltransferase II (CPTII or CPT2) deficiency
  • Combined oxidative phosphorylation deficiency (COXPD)
  • Danon disease
  • 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)
  • Other inherited cardiomyopathy
  • Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency
  • Wolff-Parkinson-White syndrome (WPW)

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

HCM is an autosomal dominant disorder. Fabry disease and Danon disease are X-linked disorders. Pompe disease, glycogen storage disease type III, ELAC2-related and MTO1-related combined oxidative phosphorylation deficiency are autosomal recessive 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, 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
ACADVL NM_000018.3
ACTC1 NM_005159.4
ACTN2* NM_001103.3
AGL NM_000642.2
ALPK3 NM_020778.4
ANKRD1* NM_014391.2
BAG3 NM_004281.3
CACNA1C* NM_000719.6; NM_001129840.1
CALR3 NM_145046.4
CAV3 NM_033337.2
CPT2 NM_000098.2
CSRP3 NM_003476.4
DES NM_001927.3
ELAC2 NM_018127.6
FHL1 NM_001449.4
FLNC* NM_001458.4
GAA* NM_000152.3
GATA4 NM_002052.3
GLA* NM_000169.2
JPH2 NM_020433.4
KLF10 NM_005655.3
LAMP2 NM_002294.2
LDB3 NM_001080116.1; NM_001171610.1,NM_007078.3
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
MYOM1 NM_003803.3
MYOZ2 NM_016599.4
MYPN NM_032578.3
NEXN NM_144573.3
PDLIM3 NM_014476.5
PLN NM_002667.3
PRKAG2 NM_016203.3
TCAP NM_003673.3
TNNC1 NM_003280.2
TNNI3 NM_000363.4
TNNT2 NM_001001430.2
TPM1 NM_001018005.1
TTR NM_000371.3
VCL NM_014000.2

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.
CACNA1C: Deletion/duplication and sequencing analysis is not offered for exons 44-45.
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 variants NM_000256.3:c.1224-52G>A and c.3628-41_3628-17del25.