Overview

This MLPA assay for analysis of the OTOA, STRC, CATSPER2 genes accounts for the majority of SNHL associated copy number changes and is suitable as a second tier test following a negative result from GJB2/GJB6 (Connexin 26/30) testing.

For comprehensive diagnostic testing for non-syndromic bilateral SNHL, we recommend requesting this new assay in conjunction with our exome sequencing test (exome-medium) to detect sequence variants in deafness associated genes in the PanelApp Australia gene panel. Both tests are available as a bundle.

Alternatively, for the most comprehensive analysis, our whole genome sequencing (WGS) test is available (WGS-medium). Genome sequencing is able to detect copy number and sequence variants in both the coding and non-coding regions of all deafness associated genes in a single assay.

Category

Cost

MLPA for OTOA, STRC, CATSPER2 only: $300

Bundle: exome-medium and MLPA: $2195

Reporting time

3-4 months

Contacts

P: 1300 118 247
E: [email protected]

Specimen Requirements

EDTA blood:

Adult: 5ml
Child: 1-3ml