Usher syndrome


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa and constant vestibular dysfunction. Usher syndrome type I is distinguished from type II on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are ''hard of hearing.'' Patients with Usher syndrome type III have progressive hearing loss.

Also known as

Usher syndrome type 1D, Usher syndrome type 1D/F digenic, USH1D

Request a test

When requesting this test please use the referral form provided and complete the required proforma. No testing will be carried out without a proforma.

Additional information

Next generation sequencing panel of 95 genes. 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

Next generation sequencing panel screen 80 days, familial mutation testing 20 days

Disease / group

Next generation sequencing panel of 13 genes


Upon request

Call in advance?

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


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

© 2011 Great Ormond Street Hospital for Children NHS Trust