Test Background
Mutations in the SLC26A4 (PDS) gene cause Pendred syndrome with sensorineural hearing loss or an autosomal recessive non-syndromic deafness (DFNB4). Pendred syndrome is characterized by severe-to-profound bilateral sensorineural hearing impairment, vestibular dysfunction, temporal bone abnormalities, and development of euthyroid goiter in late childhood to early adulthood.
This laboratory performs Sanger sequencing of the SLC26A4 gene.
Gene(s)
SLC26A4
