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

R98

Likely inborn error of metabolism

Test Group

Metabolic

Specialties

Clinical Genetics Metabolic Medicine Neurology

Test code

R98.1

Test name

N/A

Target genes

WGS

Test scope

n/a

Test method/ technology

n/a

Optimal Family Structure

n/a

Eligibility Criteria

Clinical feature of a likely inborn error of metabolism where targeted testing is not possible

Commissioning group

Specialised

Overlapping idications

• Targeted tests for specific metabolic disorders should be used where clinical features or biochemical/enzyme testing results are rapidly available and strongly suggestive of the relevant disorder(s)

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

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