Clinical Indication ID & Name
Monogenic hearing loss
Test Group
Audiology
Test code
R67.1
Test name
N/A
Target genes
Hearing loss (126)
Test scope
Small variants
Test method/ technology
WES or Large Panel
Optimal Family Structure
n/a
Eligibility Criteria
Likely or possible monogenic hearing loss
Hearing loss should be confirmed and bilateral
Cases of unilateral hearing loss are accepted IF there are:
(1) additional features suggesting a syndromic hearing loss diagnosis such as Waardenburg / BOR / CHARGE OR
(2) a family history of bilateral/unilateral hearing loss consistent with a monogenic cause (for example supported by audiograms).
Test code
R67.2
Test name
N/A
Target genes
Hearing loss (126)
Test scope
Exon level CNVs
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Likely or possible monogenic hearing loss
Hearing loss should be confirmed and bilateral
Cases of unilateral hearing loss are accepted IF there are:
(1) additional features suggesting a syndromic hearing loss diagnosis such as Waardenburg / BOR / CHARGE OR
(2) a family history of bilateral/unilateral hearing loss consistent with a monogenic cause (for example supported by audiograms).
Commissioning group
Specialised
Overlapping idications
R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
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
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form