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

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.

Sequencing

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

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:

Hayashi M, et al. The spectrum of epidemiology underlying sudden cardiac death. Circ Res, 2015. 116, 1887–1906.
Bezzina C R, et al. Genetics of sudden cardiac death. Circ Res, 2015. 116, 1919–1936.
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.