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 |
|---|---|---|---|
| Epidermolysis Bullosa Simplex 5B, with Muscular Dystrophy (EBS5B) | approved | 226670 | |
| Epidermolysis Bullosa Simplex 5C, with Pyloric Atresia (EBS5C) | approved | 612138 | |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive (EBS5D) | approved | 616487 | |
| Epidermolysis Bullosa Simplex 6, Generalized, with Scarring and Hair Loss (EBS6) | approved | 617294 | |
| Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness (EBS7) | approved | 609057 | |
| Epidermolysis Bullosa, Junctional 1A, Intermediate (JEB1A) | approved | 226650 | |
| Epidermolysis Bullosa, Junctional 1B, Severe (JEB1B) | approved | 226700 | |
| Epidermolysis Bullosa, Junctional 2B, Severe (JEB2B) | approved | 619784 | |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous (JEB2C) | approved | 245660 | |
| Epidermolysis Bullosa, Junctional 5B, with Pyloric Atresia (JEB5B) | approved | 226730 | |
| Epidermolysis Bullosa, Junctional, 3B, severe (JEB3B) | approved | 619786 | |
| Epidermolysis Bullosa, Junctional, 6, with pyloric atresia (JEB6) | approved | 619817 | |
| Epidermolysis Bullosa, Junctional, 7, with interstitial lung disease and nephrotic syndrome (JEB7) | approved | 614748 | |
| Epidermolysis Bullosa, Lethal Acantholytic (EBLA) | approved | 609638 | |
| Epidermolytic hyperkeratosis (EHK) | approved | 113800 | |
| Epilepsy Nocturnal Frontal Lobe 3 (ENFL3) | awaiting consideration | 605375 | |
| Epilepsy, Familial Focal, with Variable Foci 1 (FFEVF1) | approved | 604364 | |
| Epilepsy, Familial Focal, with Variable Foci 2 (FFEVF2) | approved | 617116 | |
| Epilepsy, Familial Focal, with Variable Foci 3 (FFEVF3) | approved | 617118 | |
| Epilepsy, Nocturnal Frontal Lobe, 5 (ENFL5) | approved | 615005 | |
