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
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
5mls EDTA Blood
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis