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 >
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
Next generation sequencing panel of 95 genes
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