SLC26A4 Sequencing

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

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.