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

Protein

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

Canada

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: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Hearing Loss: Pendred Syndrome (SLC26A4) - requisition

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