Branchio-oto-renal syndome (BOR)


Description

Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder, often exhibiting variable phenotype within families that includes hearing loss, branchial fistulae, ear pits and kidney malformation. Analysis is by sequencing of EYA1, followed by MLPA to detect deletions and duplications. Mutations in SIX1 and SIX5 are rare, but associated with the same phenotype


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.


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

EYA1, SIX1, SIX5


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.

© 2011 Great Ormond Street Hospital for Children NHS Trust