Inherited Disease Solutions

SeraCare’s clinical genomics technologies enable the promise of precision medicine by helping scientists and clinicians build and implement better assays.

Reference Materials for Sequencing-Based Inherited Disease Assays

SeraCare has a wide selection of pathogenic, expert-designed variants and variant types, with patient-like sample performance and precise control over mutation frequencies to properly develop, validate, and monitor inherited disease assays.

Comprehensive Solutions for Every Phase:

  • Assay Development: Relevant, stable and customizable materials with valuable mutations and variant types
  • Assay Validation: Readily available, patient-like materials to validate your workflow
  • Laboratory QC: Reliable materials that are easy to use, consistent and cost effective

Seraseq™ Sequencing Standards

Are you looking for a variety of actionable variants not readily available in traditional references such as NA12878 to expedite assay development and validation?

We work with renowned clinical laboratory experts to develop disease-specific standards with clinically relevant variants, such as single nucleotide variants and insertion-deletion (indel) mutations.


Disease specific, actionable variants to challenge your inherited disease test

SeraCare in consultation with clinical laboratory experts has designed actionable (disease-specific) variants including single nucleotide variants (SNVs) and both small and large insertion-deletion mutations (indels) so you don’t have to waste valuable resources and time to identify and source relevant variants.

Multiplexed, economical and consistent reference material

Multiplexing a large number of variants (including SNVs and indels) in a single sample saves $1000’s in sequencing and validation costs relative to evaluating one or few variants at a time. Developed in cGMP-compliant, ISO 13485 certified facilities, Seraseq NGS reference materials provide a consistent source of reference standards.

Customizable format with patient-like sample performance

Using a biosynthetic approach that produces data virtually identical to a patient sample with the same variant, the product can be customized to any target of interest (from either our pre-defined library or user defined) at the desired allele frequency.  This is valuable for both assay development and potential use as an external quality assurance (or proficiency testing) sample.

Target genes covered by Seraseq Inherited Disease products:



Products Material Number
Seraseq™ Inherited Cancer DNA Mix v1  0730-0003
Seraseq™ Cardiomyopathy Reference Material 0740-0021

For research use only. Not for use in diagnostic procedures.


Check out our VariantFlex™ Library Custom Services

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