Inherited hearing loss


Description

Inherited or familial hearing loss can present in isolated (non-syndromic) form or as syndromic hearing loss, in combination with other specific phenotypic features. The genes included in this test contribute to non-syndromic hearing loss as well as those associated with the following syndromic forms: Usher Syndrome, Waardenburg Syndrome, Pendred Syndrome, Perrault Syndrome, Chudley-McCullough Syndrome, Wolfram Syndrome and Branchio-oto-renal Syndrome.

Also known as

Non-syndromic deafness, familial deafness, Usher Syndrome, Waardenburg Syndrome, Pendred Syndrome, Perrault Syndrome, Chudley-McCullough Syndrome, Wolfram Syndrome, Branchio-oto-renal Syndrome


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

Next generation sequencing panel of 95 genes


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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