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Newborn Genetic Screening

TheraTyper - GJB2

Detection of GJB2 Mutation Associated with Congenital Hearing Loss in the Newborn

Product Overview

TheraTyper-GJB2 is a test to diagnose gene mutations that cause abnormalities of GJB2 (connexin26), a protein that constitutes the intercellular channel of the inner ear (cochlea). It enables prenatal prediction andnewborn screening of hearing loss.
TheraTyper-GJB2 helps early detection of hearing loss at birth to maximize efficient treatment and rehabilitation.

Features

  • Higher Accuracy and Reproducibility
    - Higher accuracy compared to the conventional RFLP or sequencing methods
  • Diagnosis of 3 Most Frequent Loss Mutations in Congenital Hearing Loss
    - 35delG, 167delT and 235delC
  • Providing Active Treatment Opportunities via Effective Screening

Result Examples

  • # 1 - Normal


  • # 2 - Congenital hearing loss


No. 35delG 167delT 235delC Mutation Expression (Phenotype)
#1 - - - Non-detected Normal
#2 - - + Detected (Homozygote) Congenital hearing loss

Compatible Instruments

  • MALDI-TOF MS
    (Bruker - Microflex)

Order Information

Product Cat. No. Size
TheraTyper-GJB2 GM4000 96 tests/kit

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