Homozygous MSH2 Deletion Ref Std IVD QC

Product Overview

The Homozygous MSH2 Deletion Ref Std IVD QC is a meticulously characterized reference material designed for validating detection workflows for homozygous deletions in the MSH2 gene, a key component of the mismatch repair (MMR) system. This in vitro diagnostic (IVD) quality control standard contains genomic DNA with a confirmed homozygous deletion spanning exons 1-7 of MSH2, mimicking the genetic alterations observed in Lynch syndrome and certain sporadic cancers. Manufactured under ISO 13485 guidelines, it serves as an essential tool for laboratories performing MMR deficiency testing to guide cancer screening, prognosis, and immunotherapy selection .

Product Features

Defined Deletion Architecture

Contains a precise homozygous deletion of MSH2 exons 1-7 with well-characterized breakpoints (chr2:47612345-47631892), verified by array comparative genomic hybridization (aCGH) and droplet digital PCR (ddPCR). This enables accurate validation of deletion detection limits and breakpoint mapping .

MMR Deficiency Phenotype

Derived from a cell line with confirmed MMR deficiency, as demonstrated by:

• Microsatellite instability (MSI-H) phenotype

• Absent MSH2 protein expression by IHC

• Functional MMR assay showing 90% reduction in repair activity

This provides a biologically relevant model of MSH2-associated disease .

Quantitative Performance Metrics

The standard is quantified to 50 ng/μL with copy number values verified by ddPCR (0 copies MSH2 exons 1-7; 2 copies for control gene EIF2C1). This allows precise validation of copy number variation (CNV) detection assays .

Usage

Assay Validation Protocol

Use to validate MSH2 deletion detection methods including:

• Multiplex ligation-dependent probe amplification (MLPA)

• Targeted NGS panels with CNV calling

• ddPCR-based deletion assays

• aCGH platforms

Recommended input: 200 ng DNA per assay .

Quality Control Implementation

Incorporate into QC protocols to:

• Monitor reagent lot performance for deletion detection

• Verify technician proficiency in interpreting deletion profiles

• Establish assay reproducibility across runs

• Ensure compliance with CAP/CLIA requirements for Lynch syndrome testing

Storage Instructions

Store at -20°C for up to 36 months from manufacture date. Upon first use, aliquot into single-use volumes (20 μL) and store at -20°C to avoid freeze-thaw cycles. Thaw on ice prior to use and mix gently .

FAQ

Why is MSH2 deletion testing important?

Homozygous MSH2 deletions cause Lynch syndrome, an inherited predisposition to colorectal, endometrial, and other cancers. Accurate detection enables predictive testing, early screening, and preventive interventions for at-risk individuals .

How does this standard support IVD regulatory compliance?

It meets FDA and CE IVD requirements for reference materials, including traceability, characterization, and stability data. Comprehensive documentation supports assay validation submissions and regulatory inspections .

Can it be used with MSI testing workflows?

Yes, the associated MSI-H phenotype allows simultaneous validation of both MSH2 deletion detection and MSI classification workflows, providing a comprehensive QC solution for MMR deficiency testing .

What controls are included for assay specificity?

Each standard includes a wild-type genomic DNA control from the same genetic background, enabling parallel assessment of assay specificity and false positive rates for deletion calling .

Technical Data

Product application

1.Evaluate the stability of the experiment and analysis process

2.Negative and negative reference/quality control products