| Background and Introduction

Deafness gDNA Reference Standard contains homozygous and heterozygous mutations on 4 genes  including GJB2, SLC26A4, GJB3 and mitochondria 12S rRNA, which can be used as negative and positive controls for routine quality control and performance evaluation of the test process.

| Key Features

● Sample derived from human cell line 

Mimic patient samples 

● Comprehensive variant loci 

Covers common variants of inherited deafness  

● Wide range of applications 

PCR, NGS, Sanger and other platforms are applicable

| 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 new assay panels and monitor process performance

● Compare assay variation across platforms

● Reveal limits of process in variants detection and quantification Analyze the sensitivity, accuracy and specificity of the assay process

| Product list