Non-syndromic Hearing Loss Gene Panel Service Update
25 June 2024
In line with the recent additions to the Medicare Benefits Schedule (MBS)1, the Department of Diagnostic Genomics at PathWest is pleased to announce that we will be offering a non-syndromic hearing loss gene panel which will replace the current GJB2/GJB6 testing from 1 July 2024.
The genes included in the non-syndromic hearing loss panel (including some overlap with syndromic conditions) performed at PathWest are: AIFM1, BDP1, CDH23, COL11A2, DIAPH1, EPS8L2, GJB2, GJB6, LOXHD1, MYO15A, MYO7A, OTOA, PCDH15, POU3F4, PRPS1, SLC26A4, STRC, TECTA, TMC1, TMPRSS3, USH1C, WFS1, WHRN.
Genes in this panel reflect local data as well as local and international literature2-4 with an expected diagnostic pick-up rate of up to 60%. Please note, the diagnostic yield of this panel is maximized in the following instances:
Congenital hearing impairment with no identifiable infectious or traumatic caus...