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Paediatric Laboratory Medicine

Hearing Loss - Pendred Syndrome: SLC26A4 Deletion/Duplication Analysis

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.

Test Name

Hearing Loss - Pendred Syndrome: SLC26A4 Deletion/Duplication Analysis

Alternate Name/ Synonym

  • PDS
  • Deafness with Goiter
  • Enlarged Vestibular Aqueduct and Goiter

Gene Name

  • SLC26A4

Alternate Gene Name


Test Code



Molecular Genetics


Deletion/duplication analysis via MLPA

External Proficiency Testing


Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)


Solute carrier family 26, member 4


Hearing Loss: Pendred Syndrome

Specimen Type

Blood; we will not accept extracted DNA for 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).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate)


Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes


Shipping and Contact Information

The Hospital for Sick Children
Molecular Genetics Division
555 University Avenue
Room 3420, Hill Wing
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 1


Interpretation is provided in report

Information Sheet: Hearing Loss: Pendred Syndrome