AI-Edigene® SLC26A4 p.H723R Reference Standard Plus

Product Overview

Integrating AI-driven sequence optimization with clinical relevance, this standard supports laboratories in validating their genetic testing workflows for hearing loss diagnostics. By providing a consistent benchmark, it ensures reliable identification of carriers and affected individuals, enabling early intervention and genetic counseling.

Product Features

• AI-Optimized Design: Synthetic DNA fragments engineered using generative AI to enhance primer binding efficiency and minimize amplification bias, resulting in ≥99.9% mutation detection accuracy .

• Contextual Complexity: Includes flanking intronic and exonic sequences to replicate the natural genomic environment of the p.H723R mutation, improving assay specificity.

• Multi-Platform Validation: Validated for use with both NGS panels (≥50 genes) and targeted Sanger sequencing, ensuring compatibility with common clinical workflows.

• Stability Profile: Lyophilized format remains stable for 36 months at -80°C; rehydrated DNA stored at -20°C retains integrity for up to 12 months .

Usage

Reconstitution Protocol:

• Rehydrate with 100 µL of molecular-grade water to achieve a concentration of 10 ng/µL, vortex briefly, and centrifuge at 3,000 x g for 2 minutes.

• Prepare serial dilutions (1:10 to 1:10,000) to validate assay sensitivity across clinically relevant allele frequencies.

Assay Validation:

• Include the reference standard in each sequencing run to verify mutation calling accuracy and depth of coverage (>500x recommended).

• For NGS, use bioinformatics pipelines to confirm alignment with the reference sequence and correct identification of the p.H723R variant.

Quality Assurance:

• Monitor allele frequency concordance between expected and observed values; a deviation <2% indicates reliable assay performance.

• Document results using the provided digital template to track long-term assay stability.

FAQ

How does AI design improve mutation detection?

AI algorithms optimize flanking sequences to reduce secondary structure formation during PCR, a common cause of missed mutations in GC-rich regions like SLC26A4 .

Is this standard suitable for carrier screening?

Yes. Its sensitivity allows detection of heterozygous mutations, making it ideal for validating carrier screening assays for Pendred syndrome.

What is the impact of storage temperature on performance?

Long-term storage at -80°C is critical for maintaining integrity; avoid storing at 4°C for more than 48 hours, as this can lead to degradation .

How does it support genetic counseling?

By ensuring accurate detection of p.H723R mutations, it enables reliable risk assessment for couples with a family history of LVAS, supporting informed reproductive decisions .