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Genetics · Cardiovascular diseases
Healthincode Distributed by Goffin Diagnostics

Hereditary Cardiovascular Diseases

The Hereditary Cardiovascular Diseases panel analyses 261 genes associated with cardiomyopathies and channelopathies by next-generation sequencing. Coverage includes all coding regions, together with clinically significant promoter and UTR regions and, for some genes, deep intronic regions. The panel was validated on the Illumina NextSeq 500/550 System. One kit covers 16 reactions. Research use only.

NGS RUO Healthincode 1 Unit (16 Reactions)
Technique
NGS
Brand
Healthincode
Packaging
1 Unit (16 Reactions)
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Quote-based, no public pricing. Add to your quote and our specialists put together a proposal with the right documentation, typically within 24 hours.

Product details

This kit in detail

  • 261 genes for cardiomyopathies and channelopathies
  • All coding regions, plus clinically significant promoter and UTR regions and selected deep intronic regions
  • Conditions covered include hypertrophic cardiomyopathy, long QT syndrome and atrial fibrillation
  • Validated on the Illumina NextSeq 500/550 System
  • Validated against Coriell Institute benchmark DNA and genotyped Health in Code samples
  • Molecular barcoding during library preparation
  • 16 reactions per kit, with 16 unique 8-nucleotide indexes

The Hereditary Cardiovascular Diseases panel analyses the genetic basis of inherited cardiovascular conditions by next-generation sequencing. Cardiomyopathies and channelopathies are genetically heterogeneous, which is a large part of why their clinical presentation and course vary so widely between patients.

Panel content

The panel covers 261 genes associated with cardiomyopathy and channelopathy. All coding regions are captured, together with clinically significant promoter and UTR regions and, for some genes, deeper intronic regions. The conditions covered range from hypertrophic cardiomyopathy and long QT syndrome to atrial fibrillation.

Validation

The panel was validated on the Illumina NextSeq 500/550 System, using benchmark DNA samples from the Coriell Institute and genotyped samples from the Health in Code collection.

Workflow

Library preparation uses Illumina adapters and molecular barcoding. The kit supplies 16 unique 8-nucleotide indexes in single-use strips, so 16 samples can be identified within one sequencing run.

Regulatory status

This kit is for research use only.

The kit is equipped with reagents for 16 reactions, including:

  • Fragmentation Buffer: Buffer used for DNA fragmentation, prior to NGS libraries preparation.
  • Fragmentation Enzyme: Enzyme used for DNA fragmentation, prior to NGS libraries preparation.
  • Reagents Plate: Plate with all the reagents required to perform the DNA end repair, the Illumina
    adapters linkage, and amplifications done during the library preparation protocol.
  • Beads and Buffers plate: Plate with magnetic particles and wash buffers, required for the DNA
    capture and its purification during the library preparation protocol.
  • Index: Oligonucleotides with a unique 8 nucleotides identifier sequence compatible with the
    illumina adapters required to identify each sample during library preparation and NGS
    sequencing. The kit includes 16 different indexes, prepared in single-use strips.
  • Cardiovascular Probes Strips: Biotinylated synthetic oligonucleotides complementary to the
    target regions of the target genes.
  • Elution Buffer: Buffer used to elute the DNA.
Documentation

Datasheets and regulatory documentation

Everything your quality team needs for evaluation and procurement.

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