NGS Controls & Reference Materials
Inherited Disease Solutions
SHOP PRODUCTSTargeted next-generation sequencing (NGS) panels are increasingly being used to discover causative variants for inherited disease. However, a lack of multiplexed reference materials covering clinically relevant variants and different variant types is limiting the ability to perform robust assay development and validation. The traditional practice of using cell-line materials or remnant patient samples covering a small subset of target variants is neither informative for the spectrum of mutations that need to be covered nor cost-effective when assessing a large number of variants individually.
SeraCare’s portfolio of inherited disease products enables the promise of clinical genomics with highly multiplexed patient-like reference materials to properly develop, validate, monitor, and standardize NGS assays focused on inherited disease. These clinically relevant reference materials cover the functional areas of:
- Inherited diseases
- Cardiomyopathy
Actionable variants to optimize, validate, and standardize your assay
- Expert-designed constructs with clinically relevant variants
- Save $1,000s in sequencing and validation costs with highly-multiplexed products
- Assess common, rare, and technically challenging variants
- Coverage across broad variant types - SNVs, insertions, and deletions
- Customizable through our VariantFlex custom platform
- Manufactured in GMP-compliant and ISO 13485-certified facilities
Target genes covered by Seraseq inherited disease products:
| BRCA1 |
MSH6 |
MSH2 |
PMS2 |
| BRCA2 |
MLH1 |
CDKN2A |
MYBPC3 |
| MYH7 |
TNNI3 |
TNNT2 |
TPM1 |
