Order or find a test

Please continue to use the test directory below. The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Synnovis strike action: see news page for more details https://southeastgenomics.nhs.uk/synnovis-industrial-strike-action-16th-dec-20th-dec-inclusive/

Clinical Indication ID & Name

R67

Monogenic hearing loss

Test Group

Audiology

Specialties

Audiology/ Audiovestibular Medicine Clinical Genetics Ear, Nose and Throat Paediatrics

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old