Seraseq™ Cardiomyopathy Reference Material

SeraCareSKU: SER-0740-0021

Price:
$3,398

Description

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.

 

Specifications:

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%

 

Product Report

Package Insert

Product Sheet

You may also like

Recently viewed