| Introduction

Inherited deafness gDNA reference standards contain homozygous and heterozygous mutations and matched wildtypes on 4 pathogenic genes including GJB2, SLC26A4, GJB3, and mitochondria 12S rRNA. These reference standards can be used as external mutation and wildtype quality controls for the development, performance evaluation, and routine quality controls of deafness nucleic acid assay processes.

Key Features

 Derived from human cell line 

Mimic clinical samples 

 Comprehensive variant loci 

Covers common variants of inherited deafness  

 Wide range of applications 

PCR, NGS, Sanger and other platforms

| Application

 Assess the efficiency of detection process

 Evaluate the impact of background noise on variant detection

 Validate the stability of the assay process 

Optimize and validate the performance of new  assay panels

 Compare assay variation across platforms

 Reveal limits of process in variants detection and quantification 

Analysis the sensitivity, accuracy and specificity of the assay process

Product list

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