Controls & Reference Materials

Seraseq™ Cardiomyopathy Reference Material

Material Number 0740-0021
Size 1 x 200 µL
Inventory Status In Stock
Unit EA
Seraseq Cardiomyopathy Reference Material addresses the lack of multiplexed, patient-like reference materials with an expert-designed product1 for targeted NGS assays focused on hypertrophic cardiomyopathy (HCM). This unique product combines ten actionable HCM mutations in a well-characterized genomic background and can be used for assay development, validation, and to support lab QC standardization.

Key features include:

  • Ten variants considered pathogenic or likely pathogenic for HCM in a single sample
  • Mutation targets precisely quantitated with digital PCR
  • Well-characterized GM24385 human genomic DNA as background wild-type material
  • Manufactured in cGMP compliant and ISO 13485-certified facilities

References:

1. Emily M Kudalkar, Naif AM Almontarishi, Catherine Huang, Bharathi Anekella, Mark Bowser, Elizabeth Hynes, Russell Garlick, Birgit H. Funke. Multiplexed reference materials as controls for diagnostic next generation sequencing – a pilot investigating applications for hypertrophic cardiomyopathy, The Journal of Molecular Diagnostics.

For research use only. Not for use in diagnostic procedures.

Seraseq Cardiomyopathy Reference Material

Doc type
Package Insert

Cardiomyopathy Reference Material v1

Doc type
Product Sheet

Mutations included in the Seraseq Cardiomyopathy Reference Material

Gene ID Mutation Type HGVS Nomenclature Amino Acid Change Class Targe Allele Frequency
MYBPC3 Substitution c.1504C>T p.Arg502Trp Pathogenic 50%
MYBPC3 Small Insertion c.2373_2374insG p.Trp792ValfsX41 Pathogenic 50%
MYBPC3 Large Deletion (in repetitive region) c.3628-41_3628-17del NA Likely Pathogenic 50%
MYH7 Substitution c.1988G>A p.Arg663His Pathogenic 50%
MYH7 Substitution c.1357C>T p.Arg453Cys Pathogenic 50%
MYH7 Substitution c.1750G>C p.Gly584Arg Likely Pathogenic 50%
TNNI3 Small Deletion c.532_534delAAG p.Lys178del Pathogenic 50%
TNNI3 Substitution c.575G>A p.Arg192His Pathogenic 50%
TNNT2 Depletion (in highly repetitive region) c.487_489delGAG p.Glu163del Pathogenic 50%