Usher syndrome


Description

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 >


Additional information

Next generation sequencing panel of 95 genes. For additional information please click on the link


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

Next generation sequencing panel screen 80 days, familial mutation testing 10 days


Disease / group

CDH23


Cost

Upon request


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


Genetics

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

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