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

R53

Fragile X

Test Group

Core

Specialties

Clinical Genetics Paediatrics

Test code

R53.1

Test name

N/A

Target genes

FMR1 STR

Test scope

n/a

Test method/ technology

STR testing

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features characteristic of fragile X syndrome or other FMR1-related disorder
Typical fragile X syndrome manifestations in females: learning difficulty (usually mild, IQ often 80-85, but can be moderate or severe LD)
Typical fragile X syndrome manifestations in males: moderate to severe developmental delay / learning difficulty (IQ if measured would be 35-70)

Commissioning group

Core

Overlapping idications

• R29 Intellectual disability – microarray, and sequencing • R54 Hereditary ataxia with onset in adulthood test should be used in preference in individuals with adult onset ataxia given the broad range of possible causes • R402 Premature ovarian insufficiency test should be used where this is the relevant clinical context

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

Molecular, Cytogenetic, Neurogenetic and NIPD Test Request Form 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