Hereditary Hearing Loss secondary to SLC26A4 (PDS) mutations
About the Syndrome | Indications | Specimen l Testing l Sensitivity l Turnaround Time l CPT Codes / Cost l Shipping Instructions l Results
About the Syndrome
Hereditary hearing loss affects about 1 in 1500 infants and accounts for more than 50% of causes of childhood deafness. Mutations in many different genes result in hereditary hearing loss and can be inherited in an autosomal dominant, autosomal recessive, X-linked, or mitochondrial manner. About one-third of all children with sensorineural hearing loss have an abnormality in their temporal bones and about 25% of these patients will have mutations in the SLC26A4 gene (aka PDS), which encodes for the pendrin protein.
Pendred syndrome is inherited as an autosomal recessive condition. Patients with two mutations in this gene have Pendred Syndrome, which, in addition to the hearing loss and temporal bone anomalies, can also be associated with thyroid abnormalities. Patients with Pendred syndrome typically develop their goiter and / or hypothyroidism during adolescence or adulthood. Alternatively, patients with one mutation in the PDS gene are thought to have a nonsyndromic form of Pendred Syndrome not associated with thyroid abnormalities. Digenic inheritance is postulated.
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Indications
- Hearing loss of unknown etiology in association with a cochlear defect
- Carrier testing in relative of patient with known PDS mutation
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Specimen
At least 3cc whole blood in purple top (EDTA) tube. Label tube with patient's name, birth date, and date of collection. Phlebotomist must initial tube to verify patient's identity.
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Testing Methodology
PCR-based sequencing of the PDS gene.
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Sensitivity
PCR-based sequencing detects 99% of mutations in PDS.
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Turnaround Time
2-3 weeks
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CPT Codes and Cost
83890, 83898(x20), 83894(x20), 83904(x40), 83909(x40), 83912
Please call 513-636-4474 for current pricing.
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Shipping Instructions
Please enclose test requisition and audiogram with sample. All information must be completed before sample can be processed. Place samples in Styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday.
Ship to:
Cytogenetics and Molecular Genetics Laboratories
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229
513-636-4474
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Results
Results will be reported to the referring physician or genetic counselor as specified on the requisition form.
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