Change to Patient Eligibility for NHS England Commissioned Genomic testing – Fragile X testing
Update
Change to Patient Eligibility for NHS England Commissioned Genomic testing – Fragile X testing
Genomic testing is commissioned by NHS England with the genomic tests available and patients eligible to access a test specified in the national genomic test directory (NHS England » National genomic test directory).
From the 2nd January 2025, the targeted test for the FMR1 expansion associated with Fragile X syndrome has been withdrawn.
Any requests received by the laboratory before 1st March 2025 will continue to be processed, however from 1st March 2025, if samples are received for Fragile X testing, testing will not be initiated. DNA will be stored and a letter sent to the referring clinician to inform them that no testing was available.
Alternative testing for Fragile X
FMR1 repeat expansions can be detected using Whole Genome Sequencing (WGS). If the patient fulfils the eligibility criteria for R27 Paediatric Disorders (by WGS) consider ordering this test. Please note that WGS orders require a fully completed WGS Test Order Form, a Record of Discussion (consent), and blood samples from child and both parents where possible. For more information on ordering WGS see Referring Whole Genome Sequencing (WGS) for a Rare Disease: Clinician’s How-To Guide – North Thames GMS : North Thames GMS
Alternatively, a referral to a clinical genetics clinic may be appropriate.
Non-WGS tests.
To avoid delays in testing please provide clear information on the Test Order Form Test order forms – North Thames GMS : North Thames GMS (norththamesgenomics.nhs.uk) and include the Test Directory indication code (see quick reference table below).
| Congenital Abnormalities/Dysmorphism (microarray) – to be used for high chance of chromosome syndrome only. | R28 |
| Intellectual Disability (microarray) – for moderate/severe/profound ID | R377 |
| Prader Willi syndrome testing | R48 |
| Angelman Syndrome testing | R47 |
| Beckwith Wiedeman Syndrome | R49 |
| Isolated hemihypertrophy | R50 |
| Silver-Russell syndrome | R147 |
| Temple Syndrome | R267 |
| Neurofibromatosis Type 1 | R222 |
| Myotonic Dystrophy | R72 |
| Cystic Fibrosis | R184 |
| Duchenne or Becker Muscular Dystrophy | R73 |
For queries about this change in eligibility criteria or questions about genomic testing please attend one of the drop-in sessions detailed below or email the laboratory gos-tr.norththamesgenomics@nhs.net
Training and Resources
Drop-in sessions for paediatricians
If you have specific questions on these changes to the test directory, please attend one of the following online sessions:
- 11th Feb 2-2:30pm
- 24th Feb 9:30-10am
Each session will be attended by a member of the North Thames Genomic Medicine Service team. Please email nt-gmsa@gosh.nhs.uk if you would like a link to join the sessions
Genomic Question Time
The North Thames Genomic Medicine Service team run question time sessions on the first Thursday of each month (from 12:30). These sessions provide healthcare professionals with an informal opportunity to discuss questions they may have about ordering genetic tests for their patients. Please email nt-gmsa@gosh.nhs.uk if you would like a link to join the sessions.
Other resources
For more information about whole genome sequencing, including a guide on the test ordering process, please visit the North Thames Genomic Medicine Curated Collection.
You can also find wider education content on genomic testing in paediatric care through the GeNotes website.
February 10, 2025
