Catalog No. : SER-0740-0021

Seraseq™ Cardiomyopathy Reference Material

Seraseq™ Cardiomyopathy Reference Material

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
ItemSize Application Price
Seraseq™ Cardiomyopathy Reference Material $3,257.00

Mutations included in the Seraseq Cardiomyopathy Reference Material

Gene IDMutation TypeHGVS NomenclatureAmino Acid ChangeClassTarge Allele Frequency
MYBPC3Substitutionc.1504C>Tp.Arg502TrpPathogenic50%
MYBPC3Small Insertionc.2373_2374insGp.Trp792ValfsX41Pathogenic50%
MYBPC3Large Deletion (in repetitive region)c.3628-41_3628-17delNALikely Pathogenic50%
MYH7Substitutionc.1988G>Ap.Arg663HisPathogenic50%
MYH7Substitutionc.1357C>Tp.Arg453CysPathogenic50%
MYH7Substitutionc.1750G>Cp.Gly584ArgLikely Pathogenic50%
TNNI3Small Deletionc.532_534delAAGp.Lys178delPathogenic50%
TNNI3Substitutionc.575G>Ap.Arg192HisPathogenic50%
TNNT2Depletion (in highly repetitive region)c.487_489delGAGp.Glu163delPathogenic50%

Seraseq Cardiomyopathy Reference Material

Package Insert



Product Report


Cardiomyopathy Reference Material v1



Product Sheet



$3,257.00