GJB2 p.G4D Genomic DNA Ref Std Deafness Res

Product Overview

Core Definition

The GJB2 p.G4D Genomic DNA Reference Standard (G4D gDNA Ref Std) is a high-quality molecular diagnostic reference material developed by CB-Gene, specifically designed for GJB2 gene-related deafness research and detection kit development. It targets the p.G4D mutation site of the GJB2 gene, a key member of the four hot-spot deafness genes (GJB2, SLC26A4, mitochondrial DNA 12S rRNA, and GJB3) that account for approximately 70% of hereditary deafness variations in the Chinese population.

Product Attributes

This reference standard is provided in genomic DNA (gDNA) form, with a standardized molecular weight and stable sequence structure, ensuring consistent performance in various experimental scenarios. It is engineered to meet the rigorous accuracy requirements of deafness gene detection, serving as a reliable calibration tool for manufacturers developing detection kits using technologies such as gene chip, NGS sequencing, and real-time fluorescence detection.

Product Benefits

Enhanced Detection Accuracy

Acts as a gold standard for validating the performance of GJB2 p.G4D mutation detection kits, reducing false positive/negative rates caused by experimental deviations.

Aligns with clinical detection needs, supporting the identification of drug-induced and late-onset deafness carriers that conventional physical hearing screening may miss.

Broad Compatibility & Versatility

Compatible with multiple mainstream detection technologies, including PCR-reverse dot blot, fluorescent PCR melting curve analysis, and microarray chip methods, matching the technical routes of 11+ approved deafness detection reagents in the market.

Suitable for various application scenarios, from kit R&D and production quality control to clinical laboratory proficiency testing.

Rigorous Quality Control

Undergoes strict quality verification, ensuring stable concentration, high purity, and no cross-contamination. It maintains integrity during long-term storage, providing consistent results across different batches.

Usage

Application Scenarios

Deafness Detection Kit Development

Used as a positive control and calibration standard during the R&D phase of GJB2 p.G4D-specific detection kits, ensuring the kits meet regulatory requirements for accuracy and reliability.

Clinical Laboratory Quality Assurance

Assists clinical laboratories in verifying the performance of existing detection systems, ensuring compliance with national standards for hereditary deafness screening (e.g., pre-pregnancy, prenatal, and neonatal screening).

Academic Research

Serves as a reference material for studies on GJB2 gene mutation mechanisms, contributing to the advancement of deafness etiology research and targeted intervention strategies.

Usage Guidelines

Thaw the product on ice before use and mix gently; avoid repeated freeze-thaw cycles to prevent DNA degradation.

Dilute to the required concentration according to experimental protocols, matching the input requirements of specific detection platforms (e.g., 100-150 bp fragment compatibility for PCR-based methods).

Why Choose Us

Industry-Proven Expertise

CB-Gene Biotech is a leading provider of molecular diagnostic reference standards, with a specialized focus on deafness gene detection. Our products are trusted by kit manufacturers and clinical institutions nationwide, supporting the development of approved reagents (e.g., similar to products from Guangzhou KingMed, Chengdu Boao Jingxin, and other certified companies).

Comprehensive Product Portfolio

Complementary to our existing GJB2 reference standards (e.g., CBPD0011 for c.176_191del, CBPD0012 for c.235del), the GJB2 p.G4D gDNA Ref Std expands our coverage of GJB2 mutation sites, offering one-stop solutions for multi-site deafness gene research.

Strict Regulatory Compliance

Products are manufactured in accordance with the ISO9001 and ISO13485 quality systems, ensuring that each batch of products is accompanied by a detailed quality inspection report to ensure traceability.

FAQ

Q1: What is the shelf life of the GJB2 p.G4D Genomic DNA Reference Standard?

A1: When stored at 2-8℃ in a dark environment, the product maintains stable performance for 36 months from the date of manufacture. Avoid repeated freeze-thaw cycles to extend shelf life.

Q2: Is this product suitable for digital PCR (dPCR) detection?

A2: Yes, it is optimized for dPCR and other high-sensitivity platforms. It can be used as a quantitative reference standard to validate the limit of detection (LOD) and linearity of dPCR-based GJB2 p.G4D detection assays.

Q3: Does the product come with technical support?

A3: We provide professional technical support, including protocol optimization guidance, compatibility testing advice, and troubleshooting for experimental issues. Our team of molecular biology experts is available to assist with custom requirements for deafness research applications.

Q4: How does this reference standard support neonatal deafness screening?

A4: By ensuring the accuracy of GJB2 p.G4D mutation detection, it helps identify at-risk newborns early, enabling timely intervention (e.g., hearing aids, cochlear implants) and reducing the incidence of profound deafness, aligned with national goals to reduce 20,000-30,000 new deaf children annually.