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, Junctional 2B, Severe (JEB2B) | approved | 619784 | |
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, junctional, with pyloric stenosis or pyloric atresia | approved | 226730 | |
Epidermolysis bullosa, lethal acantholytic | approved | 609638 | |
Epidermolytic hyperkeratosis (EHK) | approved | 113800 | |
Epilepsy, Familial Focal, with Variable Foci 3 (FFEVF3) | awaiting consideration | 617118 | |
Epiphyseal Dysplasia, Multiple, 1 (EDM1) | approved | 132400 | |
Epiphyseal Dysplasia, Multiple, 2 (EDM2) | approved | 600204 | |
Epiphyseal Dysplasia, Multiple, 3 (EDM3) | approved | 600969 | |
Epiphyseal Dysplasia, Multiple, 4 (EDM4) | approved | 226900 | |
Epiphyseal Dysplasia, Multiple, 6 (EDM6) | approved | 614135 | |
Epiphyseal Dysplasia, Multiple, 7 (EDM7) | approved | 617719 | |
Episodic Ataxia Type 2 (EA2) | approved | 108500 | |
Episodic Kinesigenic Dyskinesia 3; EKD3 | approved | 620245 | |
Episodic Kinesigenic Dyskinesia type1 (EKD1) | approved | 128200 | |
Facioscapulohumeral Muscular Dystrophy (FSHD1) | approved | 158900 | |
Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2) | approved | 158901 | |
Factor XIII deficiency | approved | 613225 | |