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PENDRED SYNDROME, BLOOD

Test Code: PDS
Description: Pendred Syndrome is estimated to cause up to 7.5% of congenital hearing loss and is caused by mutations on the SLC26A4 gene located on chromosome 7. Mutations can result in a shortened cochlea, an enlarged vestibular aqueduct, and goiter in a subset of patients. This assay consists of DNA isolation, gene amplification of each exon via separate polymerase chain reactions, and direct DNA sequencing that covers coding and splice site regions of all 21 exons in the SLC26A4 gene. Because mutations are distributed across all coding exons of the SLC26A4 gene, an analysis of all exons is recommended.

 
 


 
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