Seraseq® Cardiomyopathy Reference Material

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.

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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