Pendred Syndrome


Description

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

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

5mls EDTA Blood


Reference range

Not applicable


Turnaround time

40 days


Disease / group

SLC26A4


Cost

Upon request


Call in advance?

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


Genetics

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

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