Inherited Disease
Seraseq® Inherited Cardiovascular DNA Mix
Details
Resources
Specifications
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
Data Sheet for Seraseq® Inherited Cardiovascular DNA Mix
Technical Spreadsheet for Seraseq® Inherited Cardiovascular DNA Mix
Seraseq® Inherited Cardiovascular DNA Mix
Product Specifications - Seraseq® Inherited Cardiovascular DNA Mix |
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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 |