Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R370

Validation test

Test Group

Core/Specialised

Test code

R370.1

Test name

N/A

Target genes

Specific Target

Test scope

n/a

Test method/ technology

Targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

Confirmation using a second technique where required for diagnostic reporting.
Examples of settings in which this indication may be used include
• variants where QC metrics indicate that confirmation with a second technique are necessary
• variant where the sample has passed outside an accredited pipeline and confirmation of sample identify is required

Commissioning group

Core/Specialised

Overlapping idications

n/a

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/

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