Indel Standard Product Customization- CB-Gene

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Indel Standard Product Customization

A Complete Analysis of Customized Indel Standards, the Cornerstone of Precision Genetic Testing
With the rapid development of precision medicine and molecular diagnostics, gene sequencing technology has become a core tool for disease diagnosis, medication guidance, and prognosis assessment. However, even the most advanced sequencing platforms require a "ruler" to ensure the accuracy and reliability of their test results. This "ruler" is the reference standard. Customized reference standards for complex variants such as insertions/deletions (indels) play an irreplaceable and critical role.

Definition

Indels are small insertions or deletions of DNA sequences at specific locations in the genome. These variants are important contributors to many genetic diseases and cancers. Indel standards are artificially constructed DNA samples containing specific indel variants with known locations, sequences, and frequencies.

It can be thought of as a test question with a known answer. Testing laboratories use technologies such as high-throughput sequencing (NGS) to analyze these reference standards and then compare the results with the reference standard. Through this process, laboratories can comprehensively evaluate the accuracy, sensitivity, specificity, and reproducibility of the entire process, from library construction to sequencing to data analysis, ensuring the most reliable testing for every real clinical sample.

Why Custom Indel Standards Are Needed

While generic commercial standards are available, they often fail to meet the needs of all scenarios. This is why customized services are needed, primarily for the following reasons:

1.Addressing rare and unique mutations: Many genetic diseases, such as Duchenne muscular dystrophy (DMD) and hereditary breast cancer (BRCA1/2 genes), have indel mutations that are family-specific or rare in the population. Generic standards may not encompass these specific sites, making them ineffective for validating the performance of the test panel. Customized standards can accurately reproduce these mutations, providing solid diagnostic assurance.

2.Validating Specific Panels and Processes: Many laboratories use in-house developed or customized NGS test panels. Customized indel standards can precisely match the target regions and key genes covered by the panel, enabling targeted validation and ensuring flawless performance throughout the entire process, from probe capture to bioinformatics analysis.

3.Simulating Complex Variants and Unique Sequences: Some indel variants are located in regions with high GC content, high homology, or repetitive sequences, which present challenges and are prone to error in NGS detection. Customization allows for the construction of these challenging sequences, optimizing detection technology and pushing detection limits.

4.Quality Control and External Quality Assessment: For large sequencing centers or third-party clinical laboratories, custom standards containing multiple indel types and frequencies can be used for routine quality control (QC) and external quality assessment (EQA) in the laboratory, standardizing operational procedures and improving the comparability of results.

Indel Standard Customization Process

Requirements Communication and Solution Design

The user and service provider engage in in-depth communication to clarify the desired indel site, variant type, sequence context (e.g., specific gene exon region), expected mutation frequency (VAF), and final format (e.g., cell line, gDNA, cfDNA-like).

Molecular Design and Synthesis

Service providers utilize advanced technologies such as gene synthesis and gene editing (e.g., CRISPR/Cas9) to precisely introduce designed indel mutations into a specific plasmid or cell genomic context.

Amplification and Preparation

The successfully constructed mutation vector is transfected into cells, and genotypic homozygous cell lines are obtained through monoclonal screening. These cells are then cultured in large quantities to extract genomic DNA. For cfDNA standards, gDNA is processed through enzyme digestion and other methods to achieve a fragmentation similar to that of plasma-free DNA.

Precise Quantification and Quality Control

This is the most critical step. Service providers utilize high-precision absolute quantification techniques such as digital PCR (dPCR) to accurately calibrate the variable allele frequency (VAF) of indel mutations in customized standards and issue authoritative quality control reports.

Delivery and After-Sales

Quantified standards are delivered in the user-specified format (e.g., liquid or dry powder) and provided with detailed technical documentation and user guides to ensure effective application in experiments.

Core Advantages of Customized Services

High Flexibility

Truly customized to meet users' individual research or diagnostic needs.

Excellent Accuracy

Based on dPCR-derived values, the frequency is accurate, giving the standards extremely high credibility.

Perfect Compatibility

Perfectly aligned with the user's test panel and bioinformatics workflow, maximizing validation efficiency.

Technological Foresight

Capable of challenging and validating the latest sequencing technologies' ability to detect complex indels, driving technological advancement.

Service Application

Customized indel standards are widely used in:

In vitro diagnostic (IVD) product development: Providing critical performance validation data for IVD kit registration applications.

Clinical Laboratory Development (LDT): Validating the reliability and stability of in-house NGS methods, ensuring the accuracy of clinical reports.

Tumor Genetic Testing: Customized ctDNA standards containing low-frequency mutations are used for assessing MRD (minimal residual disease) and the sensitivity of early screening tests.

Genetic disease diagnosis and carrier screening: Validating the effectiveness of testing for mutations that are prevalent in specific populations.

Scientific research and algorithm development: Providing a "gold standard" dataset for bioinformatics teams developing new indel detection algorithms.

Custom indel standards services are a solid bridge connecting cutting-edge genetic technology with reliable clinical applications. By providing a highly specific and precisely defined "molecular ruler," they lay a solid foundation for the standardization, regularization, and high-quality development of the genetic testing industry. Choosing this professional custom service means choosing our unwavering commitment to test quality and precision medicine, ultimately safeguarding the health of every patient.

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