Waardenburg Syndrome type 1 and type 3


Description

Waardenburg syndrome (WS) is an auditory-pigmentary disorder consisting of four clinical subtypes. WS1 and WS3 are defined by deafness, depigmentation features and dysmorphology. WS3 individuals also have musculoskeletal abnormalities of the upper limbs. The Paired Box Gene 3 (PAX3) on chromosome 2q35 is the only gene known to be associated with WS1 and WS3 with point mutations identified in more than 90% of affected individuals. Partial and total gene deletions have also been described and may represent 10% of cases without identified point mutations.

Also known as

WS1 � Waardenburg syndrome with dystopia canthorum, WS3 � Klein-Waardenburg syndrome/ Waardenburg syndrome with upper limb anomalies


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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

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

40 days


Disease / group

PAX3


Cost

Upon request


Call in advance?

Not required


Genetics

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