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Hearing Loss: Pendred Syndrome (SLC26A4)

Alternate test name

PDS; Deafness with Goiter; Enlarged Vestibular Aqueduct and Goiter

Gene name / Alternate gene name
  • SLC26A4
  • PDS; DFNB4
Solute carrier family 26, member 4
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Deletion/duplication analysis via MLPA; Sequencing
Expected turn-around time
Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

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).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

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 requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

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

Disease condition

Hearing Loss: Pendred Syndrome

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