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Inherited Disease

Seraseq® Inherited Cardiovascular DNA Mix

Material Number 0740-0132
Size 1 x 25µL
Inventory Status In Stock
Unit EA

The Seraseq® Inherited Cardiovascular DNA Mix is a meticulously designed synthetic DNA reference material, engineered to empower laboratories in the development, validation, and routine monitoring of next-generation sequencing (NGS) and other molecular assays targeting inherited cardiovascular diseases.  

This comprehensive mix encompasses 61 clinically-relevant mutations across 56 genes, representing all major cardiomyopathy types, including hypertrophic, dilated, restrictive, and arrhythmogenic cardiomyopathies, as well as arrhythmias and other related syndromes. 

FEATURES AND BENEFITS 

  • Comprehensive Variant Coverage for Inherited Cardiovascular Diseases: contains 61 carefully selected mutations in 56 genes, ensuring broad representation of clinically significant variants linked to all major inherited cardiovascular diseases. 
  • Expertly Designed: crafted to mimic challenging genomic regions such as microsatellite instability, large deletions in repetitive regions, and large duplications; providing a robust tool for clinical laboratories working on inherited cardiovascular conditions.  
  • Clinically Relevant Mutations: all 61 variants are classified as pathogenic or likely pathogenic, adhering to ACMG recommendations, the FDA-recognized database, and/or an expert-reviewed panel.  
  • Single-Vial Convenience: Simplify workflows with a highly multiplexed reference material packaged in a single vial, reducing costs and saving time while boosting QC consistency. 
  • High-Quality Synthetic DNA: manufactured in cGMP compliant and ISO 13485-certified facilities with precision to ensure accurate and reproducible results, providing confidence in your assay performance. Variants quantified using sensitive dPCR assays and blended with the well-characterized GM24385 genomic background. Orthogonally validated by a targeted NGS panel. 

Package Insert for Seraseq® Inherited Cardiovascular DNA Mix

Doc type
Package Insert

Data Sheet for Seraseq® Inherited Cardiovascular DNA Mix

Doc type
Data Sheet

Technical Spreadsheet for Seraseq® Inherited Cardiovascular DNA Mix

Doc type
Technical Spreadsheet

Seraseq® Inherited Cardiovascular DNA Mix

Doc type
Certificate of Analysis/Technical Product Report
Lot #
10767962

Product Specifications - Seraseq® Inherited Cardiovascular DNA Mix 

Genes 

56 genes: ABCC9, ACTC1, ACTN2, ALPK3, BAG3, CACNA1C, CALM1, CALM2, CASQ2, CDH2, CTNNA3, CRYAB, DES, DMD, DSC2, DSG2, DSP, EMD, FKTN, FLNC, GAA, GATA6, GLA, HCN4, JPH2, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, NEXN, NKX2-5, PKP2, PLN, PPA2, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTR, TTN, SHOC2 

Variants 

61 mutations (see the Product Sheet (MKT-01147), the Technical Product Report or the Technical Spreadsheet (MKT-01045) available in the Resources tab for exact details. 

Disease Coverage  

Hypertrophic, dilated, restrictive, and arrhythmogenic cardiomyopathies, arrhythmias, and other related syndromes. See the technical Spreadsheet (MKT-01045) available in the Resources tab for more information. 

Nominal Concentration 

10 ng/µL (see the Technical Product Report for the exact concentration) 

Format 

Purified DNA 

Fill Volume 

1 vial x 25µL 

Total Mass 

>250 ng 

Expected Variant Allele Frequencies (VAFs) 

~50% 

Buffer 

1 mM Tris, 0.1 mM EDTA; pH 8.0 aqueous