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  • Test code: 13001
  • Turnaround time:
    10-21 calendar days (14 days on average)
  • Preferred specimen:
    Saliva or 3ML whole blood in a purple-top tube
  • Alternate specimens:
    gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Cardio Screen

Test description

The Invitae Cardio Screen analyzes more than 75 genes related to inherited cardiovascular conditions that, if detected early, may have effective medical interventions and preventive measures. Conditions tested include aortopathies, arrhythmias, cardiomyopathies, thrombophilia, and genetic forms of high blood pressure and high cholesterol.

All genes included in the Invitae Cardio Screen can also be found in the Invitae Genetic Health Screen, which includes cardiovascular and cancer genes, as well as several additional medically actionable conditions.

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Primary panel (77 genes)

ACTA2 ACTC1 ACTN2 ACVRL1 APOB BAG3 BMPR2 CACNA1C CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV1 CAV3 COL3A1 CRYAB CSRP3 DES DMD DSC2 DSG2 DSP EMD ENG F2 F5 F9 FBN1 FHL1 FLNC GDF2 GLA GPD1L HCN4 JUP KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LAMP2 LDLR LDLRAP1 LMNA MYBPC3 MYH11 MYH7 MYL2 MYL3 MYLK NKX2-5 PCSK9 PKP2 PLN PRKAG2 PRKG1 PROC PROS1 RBM20 RYR2 SCN5A SERPINC1 SGCD SMAD3 SMAD4 TCAP TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 VCL

Alternative tests to consider

Invitae Genetic Health Screen

  • Aortopathies
  • Arrhythmias
  • Cardiomyopathies
  • Thrombophilia
  • Genetic forms of high blood pressure and high cholesterol

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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.