Seraseq™ Cardiomyopathy Reference Material
Seraseq Cardiomyopathy Reference Material addresses the lack of multiplexed reference materials with an expert-designed product(1) for targeted NGS assays focused on hypertrophic cardiomyopathy (HCM). This unique product combines ten actionable HCM mutations in a well-characterized genomic background at a 50% target allele frequency that can be used for assay development, analytical validation, and to support laboratory quality assurance.
Seraseq Cardiomyopathy Reference Material includes:
- Ten variants considered pathogenic or likely pathogenic for HCM
- Mutation targets precisely quantitated with digital PCR
- Well-characterized GM24385 human genomic DNA as background ‘wild-type’ material
- Formulated at a 50 ng/µL concentration in a fill volume of 200 µL
- Manufactured in cGMP compliant, ISO 9001 and ISO 13485 certified facilities
Mutations included in the Seraseq Cardiomyopathy Reference Material
Expert-design supports targeted NGS assays
- Emily M KudalkarA*, Naif AM AlmontarishiA,B,C*,Catherine Huang D, Bharathi Anekella D, Mark BowserA, Elizabeth HynesA, Russell Garlick D, Birgit H. FunkeA,B. Multiplexed reference materials as controls for diagnostic next generation sequencing – a pilot investigating applications for hypertrophic cardiomyopathy, The Journal of Molecular Diagnostics (in press).
A Laboratory for Molecular Medicine (LMM), Partners Healthcare Personalized Medicine; Cambridge, MA, B Department of Pathology/MGH, Harvard Medical School, Boston, MA, C Center for Genetics and Inherited Diseases; Taibah University, Almadinah Almuwarah, KSA,D SeraCare Life Sciences Inc, Milford, MA.
*Contributed equally to this work
For research use only. Not for use in diagnostic procedures.