Inherited Disease

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 Non-Requirement Letter

Doc type
Safety Data Sheet (Non-Requirement Letter)

Cardiomyopathy Reference Material v1

Doc type
Product Sheet

Seraseq Cardiomyopathy Reference Material

Doc type
Safety Data Sheet (Non-Requirement Letter)

Seraseq Cardiomyopathy Reference Material

Doc type
Technical Product Report
Lot #
10594148

Seraseq Cardiomyopathy Reference Material

Doc type
Product Report
Lot #
10385566

Seraseq Cardiomyopathy Reference Material

Doc type
Technical Product Report
Lot #
10671719

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%

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