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% |