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.
Download the referral form >
Next generation sequencing panel of 95 genes. For additional information please click on the link
Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Next generation sequencing panel screen 80 days, familial mutation testing 10 days
Disease / group
Call in advance?
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