Hearing Loss: Pendred Syndrome (SLC26A4)
PDS; Deafness with Goiter; Enlarged Vestibular Aqueduct and Goiter
- PDS; DFNB4
Blood; extracted DNA will not be accepted for the MLPA portion of this test.
If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.
For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
DNA extracted at an external lab is not accepted for MLPA testing.
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
Pendred syndrome is characterized by congenital sensorineural hearing loss, temporal bone anomalies, and the development of euthyroid goiter in late childhood to early adulthood. Pendred syndrome is caused by mutations in the SLC26A4 gene which result in a deficiency of the protein pendrin. A form of non-syndromic deafness (DNFB4) is also caused by mutations in this gene. Individuals with DNFB4 have sensorineural hearing loss and may have temporal bone malformations, but do not have thyroid abnormalities.
See related information sheet: Pendred Syndrome
Hearing Loss: Pendred Syndrome
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