Pendred Syndrome


An autosomal recessive form of syndromic hearing loss caused by homozygous mutation in SLC26A4. Enlarged vestibular aqueducts (EVA) are an invariant feature, with goitre (sometimes leading to hypothyroidism) and Cochlear Mondini Malformation also associated. Heterozygous mutations in SLC26A4 have been associated both with asymptomatic carrier status for Pendred syndrome and also seen in individuals who manifest hearing loss and EVA (non-syndromic EVA).

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Additional information

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Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

5mls EDTA Blood

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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