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.
● 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
● 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