Following publication of the Rare & Inherited Disease Test Directory on 8 April 2026, due to feedback received NHS England has made a number of corrections and clarifications in the eligibility criteria in version 9.1.
These are as follows:
- R438 Paediatric pseudo-obstruction syndrome: made statement about testing for Hirschsprung more prominent by moving from “Where in the pathway” to “Testing criteria”
- R453 Monogenic short stature: the SHOX gene has remained on this gene panel pending further discussions with the provider laboratories of R453 and R52. Therefore, the statement to order R52 if suspicion is SHOX deficiency because SHOX is not on the panel, that was added in the overlapping clinical indications section for R453, has been removed.
- R32 Retinal disorders: a note has been added to state that for retinal hamartoma, other more appropriate Clinical Indications should be used where the patient meets the eligibility criteria, for example, R221 Familial tumours of the nervous system (as NF2 is not included on the retinal disorders panel) or R228 Tuberous sclerosis (as TSC1 & TSC2 are not included on the retinal disorders panel).
- R457 Sarcoma of possible germline origin: In error we had missed off an additional criterion for chordoma: Multiple benign notochordal tumour / ecchordosis physaliphora. The criteria has also been formatted so that “where other germline panel or paired WGS has not been undertaken” is now placed upfront rather than in every criterion point.
- Formatting error corrections – removal of track changes from R47, R78, R82 and R381
Please click here to see the updated directory.