Stanford Health Care
About Stanford Clinical LaboratoryLicensureContact Us

Test Directory

Test Requisitions Specimen Collection
Critical Values
Administrative Department
Clinical DepartmentsDepartment of PathologyEsoteric DepartmentsFeatured Services


Test Code: NPDS
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.


Home | About Stanford Clinical Laboratories | Careers | Contact Us | Legal Notices & Disclaimer