Waardenburg Syndrome type 1 and type 3


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

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

For additional information please click on the link

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

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

Call in advance?

Not required


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

© 2011 Great Ormond Street Hospital for Children NHS Trust