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AI-Edigene SLC26A4 p.H723R Reference Standard Plus is a specialized molecular diagnostic reference material tailored for hereditary deafness gene testing. As one of the four hotspot genes driving over 70% of genetic deafness cases in the Chinese population (alongside GJB2, mitochondrial DNA 12S rRNA, and GJB3), SLC26A4 mutations—especially the p.H723R variant—are closely associated with non-syndromic deafness and enlarged vestibular aqueduct syndrome (EVAS). This reference standard is developed to address the critical need for reliable benchmarks in testing kit development and clinical quality control.
Available in high-purity gDNA (genomic DNA) format, with optional ctDNA (circulating tumor DNA) and FFPE (formalin-fixed paraffin-embedded) variants, it accurately simulates the genetic profile of natural SLC26A4 p.H723R mutations. Each batch undergoes traceable calibration to ensure consistency, making it an essential tool for manufacturers verifying testing reagents and clinical laboratories validating detection accuracy—aligning with the goal of reducing misdiagnosis of drug-induced or late-onset deafness that conventional physical screening may miss.
DNA Change | c.2168A>G |
AA Change | p.H723R |
| Zygosity | Homozygous |
Allelic Frequency | 100% |
Chr position (GRCh38) | chr7: 107710132 |
Transcript | NM_000441.2 |
Replicates the exact genetic sequence of the SLC26A4 p.H723R mutation, with precise control of mutation allele frequency (MAF) ranging from 1% to 50%. This matches the wide range of mutation frequencies observed in clinical samples, ensuring testing kits can detect both high-frequency and low-frequency variants without false signals.
Validated via gold-standard techniques including Sanger sequencing and digital PCR. Each unit is cross-checked to confirm mutation integrity, eliminating the risk of false positives or negatives during kit validation.
Works seamlessly with mainstream molecular diagnostic platforms used in deafness gene testing, such as next-generation sequencing (NGS), fluorescent PCR, multiplex ligation-dependent probe amplification (MLPA), and reverse dot blot (RDB). This flexibility supports diverse kit development needs, from single-gene assays to multi-gene panels.
Maintains genetic stability for 12 months when stored at -20℃ (unopened) and 1 month at 4℃ (after thawing). Its formulation resists DNA degradation, even under short-term temperature fluctuations, ensuring consistent performance across batches.
Each batch includes a stability certificate, documenting performance at different time points and storage conditions, providing confidence for long-term kit development projects.
Pre-formulated in ready-to-use aliquots, eliminating the need for time-consuming sample preparation (e.g., DNA extraction, dilution). This saves up to 2 hours of workflow time for laboratory technicians.
Clear labeling includes Catalog ID, mutation type, concentration, and expiration date, simplifying inventory management and reducing human error during use.
Serves as a calibration reference for manufacturers developing SLC26A4-focused deafness testing kits. It aids in optimizing critical parameters such as PCR annealing temperature, primer/probe concentration, and NGS library preparation protocols—ensuring kits meet regulatory requirements for sensitivity and specificity.
Validates key performance indicators (KPIs) of finished kits, including limit of detection (LOD), analytical specificity (resistance to cross-reactivity with other deafness genes), and reproducibility (inter-batch and intra-batch consistency).
Used as an internal quality control (IQC) material in clinical laboratories. Regular testing with this reference standard ensures that daily detection workflows (e.g., sample processing, instrument performance) remain reliable, preventing diagnostic errors caused by equipment drift or reagent degradation.
Supports external quality assessment (EQA) programs, allowing laboratories to compare their performance with industry benchmarks and identify areas for improvement.
Enables evaluation of new detection methods for SLC26A4 p.H723R. For example, it can be used to compare the efficiency of NGS versus fluorescent PCR in detecting low-frequency mutations, helping laboratories select the most suitable technology for their clinical needs.
Assists in verifying the impact of sample types (e.g., blood, saliva, FFPE tissue) on detection results, ensuring kits perform consistently across different clinical sample sources.
The unopened reference standard should be stored at -20℃ in a frost-free freezer to avoid repeated freeze-thaw cycles (limited to 3 cycles maximum). After thawing, it can be stored at 4℃ for up to 1 month. Do not store at room temperature for more than 2 hours, as this may degrade DNA quality.
Yes. In addition to the standard gDNA format, we offer a ctDNA variant of the SLC26A4 p.H723R reference standard. This variant mimics the fragmented nature of circulating DNA in plasma, making it ideal for validating ctDNA-based testing kits—an emerging technology for non-invasive genetic screening.
Each unit comes with a certificate of analysis (CoA) that details the exact mutation frequency (e.g., 5% MAF). For additional verification, users can perform digital PCR or NGS with the reference standard, using the CoA values as a benchmark to confirm their own detection accuracy.
The shelf life is 12 months from the date of manufacture when stored according to the recommended conditions (unopened at -20℃). Once opened, the product should be used within 1 month to maintain optimal performance. Expired products should not be used, as mutation integrity may be compromised.
Yes. We offer customized solutions, including adjustments to mutation frequency (e.g., 0.1% for ultra-low LOD validation), concentration (e.g., 10 ng/μL or 50 ng/μL), and sample format (e.g., FFPE-derived DNA for tissue-based kit validation). Custom orders typically take 2–3 weeks to fulfill.
With over a decade of experience in molecular diagnostic reference standards, our team specializes in hereditary deafness genes. We closely track clinical research on SLC26A4 mutations, ensuring our reference standards reflect the latest genetic insights—such as the association between p.H723R and EVAS—to support clinically relevant kit development.
Beyond SLC26A4 p.H723R, we offer a full range of reference standards for other deafness hotspot genes, including GJB2 (c.176_191del, c.235del, c.358_360del), mitochondrial DNA 12S rRNA, and GJB3. This portfolio allows manufacturers to develop multi-gene panels, aligning with the clinical need to screen for multiple deafness-causing variants in one test.
Our production process adheres to ISO 13485 standards, with multiple quality checks at every stage—from raw material selection to final product release. Each batch is tested for purity (≥95% DNA purity), absence of contaminants (e.g., RNase, protein), and mutation accuracy, ensuring consistent, reliable performance.
We provide dedicated technical support for all users. Our team of molecular biologists is available to answer questions about product use (e.g., optimizing assay conditions), interpret CoA data, and assist with custom orders. Most inquiries are resolved within 24 hours, minimizing delays in kit development or laboratory workflows.
AI-Edigene SLC26A4 p.H723R Reference Standard Plus is a specialized molecular diagnostic reference material tailored for hereditary deafness gene testing. As one of the four hotspot genes driving over 70% of genetic deafness cases in the Chinese population (alongside GJB2, mitochondrial DNA 12S rRNA, and GJB3), SLC26A4 mutations—especially the p.H723R variant—are closely associated with non-syndromic deafness and enlarged vestibular aqueduct syndrome (EVAS). This reference standard is developed to address the critical need for reliable benchmarks in testing kit development and clinical quality control.
Available in high-purity gDNA (genomic DNA) format, with optional ctDNA (circulating tumor DNA) and FFPE (formalin-fixed paraffin-embedded) variants, it accurately simulates the genetic profile of natural SLC26A4 p.H723R mutations. Each batch undergoes traceable calibration to ensure consistency, making it an essential tool for manufacturers verifying testing reagents and clinical laboratories validating detection accuracy—aligning with the goal of reducing misdiagnosis of drug-induced or late-onset deafness that conventional physical screening may miss.
DNA Change | c.2168A>G |
AA Change | p.H723R |
| Zygosity | Homozygous |
Allelic Frequency | 100% |
Chr position (GRCh38) | chr7: 107710132 |
Transcript | NM_000441.2 |
Replicates the exact genetic sequence of the SLC26A4 p.H723R mutation, with precise control of mutation allele frequency (MAF) ranging from 1% to 50%. This matches the wide range of mutation frequencies observed in clinical samples, ensuring testing kits can detect both high-frequency and low-frequency variants without false signals.
Validated via gold-standard techniques including Sanger sequencing and digital PCR. Each unit is cross-checked to confirm mutation integrity, eliminating the risk of false positives or negatives during kit validation.
Works seamlessly with mainstream molecular diagnostic platforms used in deafness gene testing, such as next-generation sequencing (NGS), fluorescent PCR, multiplex ligation-dependent probe amplification (MLPA), and reverse dot blot (RDB). This flexibility supports diverse kit development needs, from single-gene assays to multi-gene panels.
Maintains genetic stability for 12 months when stored at -20℃ (unopened) and 1 month at 4℃ (after thawing). Its formulation resists DNA degradation, even under short-term temperature fluctuations, ensuring consistent performance across batches.
Each batch includes a stability certificate, documenting performance at different time points and storage conditions, providing confidence for long-term kit development projects.
Pre-formulated in ready-to-use aliquots, eliminating the need for time-consuming sample preparation (e.g., DNA extraction, dilution). This saves up to 2 hours of workflow time for laboratory technicians.
Clear labeling includes Catalog ID, mutation type, concentration, and expiration date, simplifying inventory management and reducing human error during use.
Serves as a calibration reference for manufacturers developing SLC26A4-focused deafness testing kits. It aids in optimizing critical parameters such as PCR annealing temperature, primer/probe concentration, and NGS library preparation protocols—ensuring kits meet regulatory requirements for sensitivity and specificity.
Validates key performance indicators (KPIs) of finished kits, including limit of detection (LOD), analytical specificity (resistance to cross-reactivity with other deafness genes), and reproducibility (inter-batch and intra-batch consistency).
Used as an internal quality control (IQC) material in clinical laboratories. Regular testing with this reference standard ensures that daily detection workflows (e.g., sample processing, instrument performance) remain reliable, preventing diagnostic errors caused by equipment drift or reagent degradation.
Supports external quality assessment (EQA) programs, allowing laboratories to compare their performance with industry benchmarks and identify areas for improvement.
Enables evaluation of new detection methods for SLC26A4 p.H723R. For example, it can be used to compare the efficiency of NGS versus fluorescent PCR in detecting low-frequency mutations, helping laboratories select the most suitable technology for their clinical needs.
Assists in verifying the impact of sample types (e.g., blood, saliva, FFPE tissue) on detection results, ensuring kits perform consistently across different clinical sample sources.
The unopened reference standard should be stored at -20℃ in a frost-free freezer to avoid repeated freeze-thaw cycles (limited to 3 cycles maximum). After thawing, it can be stored at 4℃ for up to 1 month. Do not store at room temperature for more than 2 hours, as this may degrade DNA quality.
Yes. In addition to the standard gDNA format, we offer a ctDNA variant of the SLC26A4 p.H723R reference standard. This variant mimics the fragmented nature of circulating DNA in plasma, making it ideal for validating ctDNA-based testing kits—an emerging technology for non-invasive genetic screening.
Each unit comes with a certificate of analysis (CoA) that details the exact mutation frequency (e.g., 5% MAF). For additional verification, users can perform digital PCR or NGS with the reference standard, using the CoA values as a benchmark to confirm their own detection accuracy.
The shelf life is 12 months from the date of manufacture when stored according to the recommended conditions (unopened at -20℃). Once opened, the product should be used within 1 month to maintain optimal performance. Expired products should not be used, as mutation integrity may be compromised.
Yes. We offer customized solutions, including adjustments to mutation frequency (e.g., 0.1% for ultra-low LOD validation), concentration (e.g., 10 ng/μL or 50 ng/μL), and sample format (e.g., FFPE-derived DNA for tissue-based kit validation). Custom orders typically take 2–3 weeks to fulfill.
With over a decade of experience in molecular diagnostic reference standards, our team specializes in hereditary deafness genes. We closely track clinical research on SLC26A4 mutations, ensuring our reference standards reflect the latest genetic insights—such as the association between p.H723R and EVAS—to support clinically relevant kit development.
Beyond SLC26A4 p.H723R, we offer a full range of reference standards for other deafness hotspot genes, including GJB2 (c.176_191del, c.235del, c.358_360del), mitochondrial DNA 12S rRNA, and GJB3. This portfolio allows manufacturers to develop multi-gene panels, aligning with the clinical need to screen for multiple deafness-causing variants in one test.
Our production process adheres to ISO 13485 standards, with multiple quality checks at every stage—from raw material selection to final product release. Each batch is tested for purity (≥95% DNA purity), absence of contaminants (e.g., RNase, protein), and mutation accuracy, ensuring consistent, reliable performance.
We provide dedicated technical support for all users. Our team of molecular biologists is available to answer questions about product use (e.g., optimizing assay conditions), interpret CoA data, and assist with custom orders. Most inquiries are resolved within 24 hours, minimizing delays in kit development or laboratory workflows.
