Request / Find a Test Tool

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.

Fabry disease

Clinical Indication ID & Name

R335

Fabry disease

Test Group

Metabolic

Specialties

Cardiology Clinical Genetics Dermatology Metabolic Medicine Nephrology Ophthalmology

Test code

R335.1

Test name

N/A

Target genes

GLA

Test scope

n/a

Test method/ technology

Single gene sequencing <10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

• In males: clinical and laboratory features characteristic of Fabry disease following alpha-galactosidase A enzyme testing
• In females: clinical features characteristic of Fabry disease

Test code

R335.2

Test name

N/A

Target genes

GLA

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

• In males: clinical and laboratory features characteristic of Fabry disease following alpha-galactosidase A enzyme testing
• In females: clinical features characteristic of Fabry disease

Commissioning group

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

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form