Congenital hearing impairment


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Inclusion criteria

Moderate or worse hearing loss that is congenital and/or prelingual, bilateral and apparently non-syndromic

Exclusion criteria

– Proven or suspected congenital CMV infection

– Post-meningitis

– Auditory neuropathy with concomitant neonatal hypoxia, jaundice, or prematurity

Prior genetic testing guidance

– Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.

– Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing as below is strongly recommended PRIOR TO RECRUITMENT: – GJB2 (coding region plus splice site and GJB6 deletion); SLC26A4 if enlarged vestibular aqueducts

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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