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CBPR0001
CBPR0001
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The Heterozygous MLH1 Deletion Ref Std for IVD QC is a meticulously characterized reference material designed for quality control of diagnostic assays detecting heterozygous deletions in the MLH1 gene, a key component of the mismatch repair (MMR) system. This in vitro diagnostic (IVD) standard contains genomic DNA with a confirmed heterozygous deletion spanning exons 5-8 of MLH1, mimicking the genetic alterations observed in Lynch syndrome and sporadic colorectal cancers. Manufactured under ISO 13485 guidelines, it provides a consistent reference for validating the accuracy and precision of MLH1 deletion detection workflows in clinical laboratories. With a precisely calibrated 50% allele frequency for the deleted allele, this standard is essential for ensuring reliable results in MMR deficiency testing, which guides cancer screening and prevention strategies .
Contains a precise heterozygous deletion of MLH1 exons 5-8 with well-characterized breakpoints (chr3:37035121-37042897), verified by array comparative genomic hybridization (aCGH) and droplet digital PCR (ddPCR). The deletion spans 7,776 base pairs, removing critical coding regions involved in MMR complex formation. This enables accurate validation of deletion detection limits and breakpoint mapping .
Derived from a patient-derived cell line with confirmed MMR deficiency characteristics:
• Microsatellite instability (MSI-H) in 90% of markers
• Reduced MLH1 protein expression (30% of normal levels by IHC)
• Impaired mismatch repair activity (40% reduction in functional assay)
• Preserved PMS2 expression (to distinguish MLH1-specific deficiency)
The standard is quantified to 50 ng/μL with copy number values verified by ddPCR:
• 1 copy of MLH1 exons 5-8 (deleted allele)
• 2 copies of MLH1 exons 1-4 and 9-19 (intact regions)
• 2 copies of control gene EIF2C1 (chr1:162214554-162220423)
This allows precise validation of copy number variation (CNV) detection assays.
Use to validate MLH1 deletion detection methods including:
• Multiplex ligation-dependent probe amplification (MLPA)
• Targeted NGS panels with CNV calling algorithms
• ddPCR-based deletion quantification assays
• aCGH platforms
Recommended input: 200 ng DNA per assay for optimal performance.
Integrate into laboratory QC protocols to:
• Monitor reagent lot performance for deletion detection
• Verify technician proficiency in interpreting MLH1 deletion profiles
• Establish inter-run reproducibility (target CV <5%)
• Ensure compliance with CAP/CLIA requirements for Lynch syndrome testing
Store at -20°C for up to 36 months from manufacture date. Upon first use, aliquot into single-use volumes (20 μL) using sterile technique. Avoid repeated freeze-thaw cycles (maximum 3 cycles). Thaw on ice for 15 minutes before use and mix gently by pipetting.
Heterozygous MLH1 deletions cause Lynch syndrome, an inherited predisposition to colorectal, endometrial, and other cancers with lifetime risks up to 70%. Accurate detection enables predictive testing, enhanced screening, and preventive interventions for at-risk individuals and families .
It meets FDA and CE IVD requirements for reference materials, including traceability to international standards, comprehensive characterization data, and stability studies. Documentation includes validation reports, uncertainty estimates, and performance characteristics across platforms .
Yes, the associated MSI-H phenotype allows simultaneous validation of both MLH1 deletion detection and MSI classification workflows. This provides a comprehensive QC solution for laboratories offering combined MMR deficiency testing .
Each standard includes a wild-type genomic DNA control from the same genetic background, enabling parallel assessment of assay specificity, false positive rates, and discrimination between heterozygous and homozygous deletion states.
Product Information | MLH1 Deletion Reference Standard |
Catalog ID | CBPR0001 |
Format | Genomic DNA |
Intended Use | Research Use Only |
Unit Size | 1ug |
Sanger sequencing | Download |
Storage | 2-8°C |
Expiry | 36 months from the date of manufacture |
Technical Data
Product Information | MLH1 Deletion Reference Standard |
Gene | MLH1 |
DNA Change | N/A |
AA Change | N/A |
Zygosity | Heterozygous |
Allelic Frequency | 50% |
Chr position (GRCh37) | chr3:37051418-37078384 del |
Buffer | Tris-EDTA |
Product application
1.Evaluate the stability of the experiment and analysis process
2.Negative and negative reference/quality control products
The Heterozygous MLH1 Deletion Ref Std for IVD QC is a meticulously characterized reference material designed for quality control of diagnostic assays detecting heterozygous deletions in the MLH1 gene, a key component of the mismatch repair (MMR) system. This in vitro diagnostic (IVD) standard contains genomic DNA with a confirmed heterozygous deletion spanning exons 5-8 of MLH1, mimicking the genetic alterations observed in Lynch syndrome and sporadic colorectal cancers. Manufactured under ISO 13485 guidelines, it provides a consistent reference for validating the accuracy and precision of MLH1 deletion detection workflows in clinical laboratories. With a precisely calibrated 50% allele frequency for the deleted allele, this standard is essential for ensuring reliable results in MMR deficiency testing, which guides cancer screening and prevention strategies .
Contains a precise heterozygous deletion of MLH1 exons 5-8 with well-characterized breakpoints (chr3:37035121-37042897), verified by array comparative genomic hybridization (aCGH) and droplet digital PCR (ddPCR). The deletion spans 7,776 base pairs, removing critical coding regions involved in MMR complex formation. This enables accurate validation of deletion detection limits and breakpoint mapping .
Derived from a patient-derived cell line with confirmed MMR deficiency characteristics:
• Microsatellite instability (MSI-H) in 90% of markers
• Reduced MLH1 protein expression (30% of normal levels by IHC)
• Impaired mismatch repair activity (40% reduction in functional assay)
• Preserved PMS2 expression (to distinguish MLH1-specific deficiency)
The standard is quantified to 50 ng/μL with copy number values verified by ddPCR:
• 1 copy of MLH1 exons 5-8 (deleted allele)
• 2 copies of MLH1 exons 1-4 and 9-19 (intact regions)
• 2 copies of control gene EIF2C1 (chr1:162214554-162220423)
This allows precise validation of copy number variation (CNV) detection assays.
Use to validate MLH1 deletion detection methods including:
• Multiplex ligation-dependent probe amplification (MLPA)
• Targeted NGS panels with CNV calling algorithms
• ddPCR-based deletion quantification assays
• aCGH platforms
Recommended input: 200 ng DNA per assay for optimal performance.
Integrate into laboratory QC protocols to:
• Monitor reagent lot performance for deletion detection
• Verify technician proficiency in interpreting MLH1 deletion profiles
• Establish inter-run reproducibility (target CV <5%)
• Ensure compliance with CAP/CLIA requirements for Lynch syndrome testing
Store at -20°C for up to 36 months from manufacture date. Upon first use, aliquot into single-use volumes (20 μL) using sterile technique. Avoid repeated freeze-thaw cycles (maximum 3 cycles). Thaw on ice for 15 minutes before use and mix gently by pipetting.
Heterozygous MLH1 deletions cause Lynch syndrome, an inherited predisposition to colorectal, endometrial, and other cancers with lifetime risks up to 70%. Accurate detection enables predictive testing, enhanced screening, and preventive interventions for at-risk individuals and families .
It meets FDA and CE IVD requirements for reference materials, including traceability to international standards, comprehensive characterization data, and stability studies. Documentation includes validation reports, uncertainty estimates, and performance characteristics across platforms .
Yes, the associated MSI-H phenotype allows simultaneous validation of both MLH1 deletion detection and MSI classification workflows. This provides a comprehensive QC solution for laboratories offering combined MMR deficiency testing .
Each standard includes a wild-type genomic DNA control from the same genetic background, enabling parallel assessment of assay specificity, false positive rates, and discrimination between heterozygous and homozygous deletion states.
Product Information | MLH1 Deletion Reference Standard |
Catalog ID | CBPR0001 |
Format | Genomic DNA |
Intended Use | Research Use Only |
Unit Size | 1ug |
Sanger sequencing | Download |
Storage | 2-8°C |
Expiry | 36 months from the date of manufacture |
Technical Data
Product Information | MLH1 Deletion Reference Standard |
Gene | MLH1 |
DNA Change | N/A |
AA Change | N/A |
Zygosity | Heterozygous |
Allelic Frequency | 50% |
Chr position (GRCh37) | chr3:37051418-37078384 del |
Buffer | Tris-EDTA |
Product application
1.Evaluate the stability of the experiment and analysis process
2.Negative and negative reference/quality control products
General Information
Product Information | MLH1 Deletion Reference Standard |
Catalog ID | CBPR0001 |
Format | Genomic DNA |
Intended Use | Research Use Only |
Unit Size | 1ug |
Sanger sequencing | Download |
Storage | 2-8°C |
Expiry | 36 months from the date of manufacture |
General Information
Product Information | MLH1 Deletion Reference Standard |
Catalog ID | CBPR0001 |
Format | Genomic DNA |
Intended Use | Research Use Only |
Unit Size | 1ug |
Sanger sequencing | Download |
Storage | 2-8°C |
Expiry | 36 months from the date of manufacture |
Detailed Data
Product Information | MLH1 Deletion Reference Standard |
Gene | MLH1 |
DNA Change | N/A |
AA Change | N/A |
Zygosity | Heterozygous |
Allelic Frequency | 50% |
Chr position (GRCh37) | chr3:37051418-37078384 del |
Buffer | Tris-EDTA |
Detailed Data
Product Information | MLH1 Deletion Reference Standard |
Gene | MLH1 |
DNA Change | N/A |
AA Change | N/A |
Zygosity | Heterozygous |
Allelic Frequency | 50% |
Chr position (GRCh37) | chr3:37051418-37078384 del |
Buffer | Tris-EDTA |
Product Application
1.Evaluate the stability of the experiment and analysis process
2.Negative and negative reference/quality control products
Product Application
1.Evaluate the stability of the experiment and analysis process
2.Negative and negative reference/quality control products
