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.

Fragile X

Clinical Indication ID & Name


Fragile X

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology

STR testing

Optimal Family Structure


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


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

Supporting documents


Education resources


Service updates


Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form