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Newborn Screening Ontario
Hearing Loss Risk Factor Screening

Genetic Screening Panel

Please see below for a list of mutations included in the genetic risk factor screen for Permanent Hearing Loss (PHL).

Gene

Mutations

GJB2

c.35delG, c.235delC, c.167delT, c.71G>A, c.310_323del, c.139G>T, c.-23+1G>A, c.231G>A, c.427C>T, c.269T>C

GJB6

D13S1830 (342kb deletion)

SLC26A4

c.707T>C, c.1001+1G>A, c.1246A>C, c.919-2A>G, c.2168A>G, c.1003T>C, c.1229C>T, c.1614+1G>A, c.1541A>G

 

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