Description of Medical ServiceSingleton next generation sequencing of coding regions in clinically affected individuals, including copy number variant analysis of relevant genes. Only genes known to cause hearing impairment are proposed to be analysed. The suggested diagnostic test proposed in the application is agnostic of technology, and hence it is not prescriptive to the methodologies/equipment and reagents involved. The proposed test has been referred to as whole exome analysis (WEA) by the application, as investigation is proposed to be limited to the coding regions of the genome.
Description of Medical ConditionChildhood hearing impairment is the most common condition of all those included in newborn screening. It has a genetic bases in more than 50% of cases. The genetic causes are highly variable with >100 genes currently implicated in childhood onset hearing impairment. Congenital or childhood onset deafness, although most frequently isolated, can be the first sign of more complex medical problems and syndromes making molecular diagnosis of these conditions well suited to next generation sequencing. Early understanding of the aetiology of a child’s hearing impairment is claimed to guide intervention and service use, streamlining care and maximising a child’s communication and developmental potential.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative technology
Previous Application Number/sNot Applicable
Application FormApplication Form (PDF 1299 KB)
Application Form (Word 111 KB)
Consultation SurveyConsultation Survey (PDF 689 KB)
Consultation Survey (Word 72 KB)
PASC consultation closed
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PICO ConfirmationPICO Confirmation (PDF 1191 KB)
PICO Confirmation (Word 620 KB)