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6003: Pendred Syndrome - SLC26A4 full gene sequencing

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Test Code Test Name Turnaround Blood Sample Tissue Sample CPT Codes 2015 CPT Codes 2013
6003 Pendred Syndrome 4 weeks $25,00.00 $2,600.00 81406 81406
SLC26A4 full gene sequencing

Selecting the Appropriate Sample Type

About Pendred Syndrome

SLC26A4 gene encodes a protein called Pendrin, which is a Sodium-independent chloride-iodide transporter. Mutation of SLC26A4 gene causes an autosomal recessive condition called Pendred syndrome, and an autosomal recessive non-syndromic hearing loss, DFNB4. These conditions are characterized by severe to profound sensory neuronal hearing loss. Some individuals may have dilation of the vestibular aqueduct or thyroid dysfunction. Since the disease is inherited in an autosomal recessive fashion, homozygous or compound heterozygous mutations of SLC26A4 can both cause the disease.

This assay is designed to sequence the SLC26A4 gene. For this particular test, we will test the three most common mutations with three exons, and if there are no mutations found in these three common mutations, we will sequence the entire gene.These three mutations account for 25% of all patients diagnosed with Pendred syndrome or DFNB4. Entire gene screening for this gene can detect mutations for 50% of patients with clinical diagnoses for Pendred Syndrome or DFNB4.