NGS Controls & Reference Materials
Inherited Disease Solutions
Targeted next-generation sequencing (NGS) panels are increasingly being used to detect 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 supports 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.
Features and benefits:
- Expert-designed reference materials with clinically relevant variants
- Save on sequencing and validation costs with highly multiplexed products
- Assess common, rare, and technically challenging variants
- Coverage across broad variant types - SNVs, insertions, and deletions
- Well-characterized GM24385 human genomic DNA as background wild-type material
- Manufactured in GMP-compliant and ISO 13485-certified facilities
The inherited Disease reference materials consist of the following products in purified DNA or FFPE formats, to mimic heterizygous patient samples.
|# of Variants
|Target allele frequency
Cancer DNA Mix
CDKN2A, MLH1, MSH2, MSH6, PMS2
Inherited Mutation Mix
|Seraseq® FFPE BRCA1/2
LGR Reference Material