Inherited Heart Disease Panel Sequencing

Description of Inherited Heart Disease Panel

Sudden cardiac death (SCD) from cardiac arrest accounts for an estimated 15–20% of all deaths. Coronary heart disease and valvular heart disease are the largest contributors to SCD in patients above the age of 35 years, whereas rare inherited cardiac disorders are the primary cause of SCD below the age of 35 years. Rare inherited cardiac disorders are divided into two broad classes; cardiomyopathies and channelopathies. These diseases are mainly considered Mendelian disorders, where a strong monogenic component precipitates the risk of fatal or near fatal arrhythmic events.

To support clinical research, CD-Genomics provides a predesigned inherited heart disease panel utilizing hybrid capture sequencing technology by illumina system. This panel offers 102 genes associated with heart disease. And also, you can choose the genes from the gene list to customize your exclusive panel.

Gene List of Inherited Heart Disease Panel

ABCC9 ACTC1 ACTN2 AKAP9 ANK2 ANKRD1 ANO1 APOB BAG3 BEST3
CACNA1C CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CDH2 CRYAB
CSRP3 CTNNA3 DES DMD DNAJC19 DSC2 DSG2 DSP DTNA EMD
EYA4 FHL1 FHL2 FKTN FLNC FXN GATA4 GLA GPD1L GAA
HCN4 JPH2 JUP KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ2
KCNJ5 KCNJ8 KCNQ1 LAMA4 LAMP2 LDB3 LDLR LMNA MYBPC3 MYH6
MYH7 MYL2 MYL3 MYOZ2 MYPN NEBL NEXN PCSK9 PKP2 PLN
PRDM16 PRKAG2 PSEN1 PSEN2 PTPN11 RAF1 RANGRF RBM20 RYR2 SCN10A
SCN1B SCN2B SCN3B SCN4B SCN5A SGCD SLC4A3 SNTA1 TAZ TCAP
TMEM43 TMPO TNNC1 TNNI3 TNNT2 TPM1 TRDN TRPM4 TTN TTR
VCL ZBTB17                

Highlights of Inherited Heart Disease Panel Sequencing Service

  • Target-enrichment sequencing by Illumina provides ultra-deep sequencing to target specific genomic regions with lower costs.
  • SNVs, indels, and even low frequency variations can be detected.
  • Strict quality control throughout the pipeline workflow to ensure the accuracy and repeatability of the sequencing.
  • Fast turnaround time.

Applications of Inherited Heart Disease Panel

  • Inherited heart disease mechanism studies
  • Biomarker discovery
  • Therapeutic target discovery
  • Drug target discovery
  • Discover rare mutations and detect low frequency mutations

Service Specifications

Service Specifications

Sample Requirements

  • Sample types for genome DNA from tissues, whole blood, cultured cells, and formalin-fixed paraffin-embedded (FFPE) tissues.
  • Recommended amount: 3μg
  • Minimum amount: 1μg DNA
  • Collection: Blood is collected by routine blood collection. DNA samples are stored in TE buffer or equivalent.
Service Specifications

Sequencing

  • Illumina PE150
  • Enrichment Method: Hybridization capture
  • More than 80% of bases with a ≥Q30 quality score
  • Recommended sequencing depth: ≥500x
Service Specifications

Bioinformatics Analysis

We provide customized bioinformatics analysis including:

  • Read alignment
  • Variant calling/Annotation

Gene Panel Workflow

CD Genomics provides the accurate and cost-effective inherited heart disease panel sequencing and bioinformatics analysis. Our professional expert team executes quality management, following every procedure to ensure confident and unbiased results. The general workflow for inherited heart disease panel sequencing is outlined below.

Gene Panel Workflow

For more information about the Inherited heart disease panel or need other amplification requirements, please contact us.

References:

  1. Hayashi M, et al. The spectrum of epidemiology underlying sudden cardiac death. Circ Res, 2015. 116, 1887–1906.
  2. Bezzina C R, et al. Genetics of sudden cardiac death. Circ Res, 2015. 116, 1919–1936.
  3. Anders K B, et al. Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias. European Journal of Human Genetics, 2018. 26, 303–313.
* For Research Use Only. Not for use in diagnostic procedures.

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