PGT-M conditions
The page below lists all PGT-M conditions currently authorised and awaiting consideration by the HFEA.
When publishing genetic conditions on the authorised list, we aim to be as consistent as possible with the OMIM database. However, many conditions may have several different names and we would recommend searching the list using the OMIM number for the condition as this is less likely to change throughout time.
If a condition does not appear on the list, it does not necessarily mean the condition has specifically not been authorised, it may mean that we have never before received an application from a UK centre to perform PGT-M for this condition and it has therefore never been considered by the HFEA.
Please note that we are always processing new applications to add genetic conditions to the list from UK centres licensed to perform PGT-M. This may mean that some authorised conditions may not be displayed. If you are unsure if a condition has been authorised or not, or would like any further information please contact the PGTM team at pgtm@hfea.gov.uk.
Click here for a downloadable list: approved condition list. Please note that the website page below is updated more regularly and is therefore more accurate than the downloadable list.
| Condition name | Status | OMIM number | Documents |
|---|---|---|---|
| Developmental and Epileptic Encephalopathy 85 (DEE85) | approved | 301044 | |
| Developmental and Epileptic Encephalopathy 87 (DEE87) | approved | 618916 | |
| Developmental and Epileptic Encephalopathy 89 (DEE89) | approved | 619124 | |
| Developmental and Epileptic Encephalopathy 9 (DEE9) | approved | 300088 | |
| Developmental and Epileptic Encephalopathy 90 (DEE90) | approved | 301058 | |
| Developmental and Epileptic Encephalopathy 91 (DEE91) | approved | 617711 | |
| Developmental and Epileptic Encephalopathy 92 (DEE92) | approved | 617829 | |
| Developmental and Epileptic Encephalopathy 93 (DEE93) | approved | 618012 | |
| Developmental and Epileptic Encephalopathy 94 (DEE94) | approved | 615369 | |
| Developmental and Epileptic Encephalopathy 96 (DEE96) | approved | 619340 | |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 (DEDSSH1) | awaiting consideration | 616901 | |
| Developmental Epileptic Encephalopathy 101 (DEE101) | approved | 619814 | |
| Developmental Epileptic Encephalopathy 102 (DEE102) | approved | 619881 | |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked (NDI1) | approved | 304800 | |
| Diamond Blackfan Anemia 1 (DBA1) * | approved | 105650 | |
| Diamond-Blackfan Anemia 10 (DBA10) | approved | 613309 | |
| Diamond-Blackfan Anemia 12 (DBA12) | approved | 615550 | |
| Diamond-Blackfan Anemia 13 (DBA13) | approved | 615909 | |
| Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis (DBA15) | approved | 606164 | |
| Diamond-Blackfan Anemia 21 (DBA21) | approved | 620072 | |