Clinical Indication ID & Name
Aminoglycoside exposure posing risk to hearing
Test Group
Core
Specialties
Test code
R65.1
Test name
N/A
Target genes
MT-RNR1 1555A>G
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Significant exposure to aminoglycosides posing risk of ototoxicity
This indication would be relevant to:
1. individuals with a predisposition to gram negative infections for example due to known respiratory disease (e.g. bronchiectasis, cystic fibrosis) or due to structural or voiding genitourinary tract disorders,
OR
2. individuals with hearing loss who have been exposed to aminoglycosides
Commissioning group
Core
Overlapping idications
• R67 Monogenic hearing loss should be used in individuals with unexplained hearing loss
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form