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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Clinical Indication ID & Name

R244

Carrier testing for known familial mutation(s)

Test Group

Core/Specialised

Specialties

Clinical Genetics

Test code

R244.1

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

Patient requiring carrier testing for specific disorder where the familial mutation(s) have already been identified in a relative
The range of specialties who will request this test will depend on the disorder in question

Commissioning group

Core/Specialised

Overlapping idications

n/a

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

Mitochondrial Diseases in Adults and Children RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool