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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 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, 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
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 1 (EKD1) approved 128200
Episodic Kinesigenic Dyskinesia 3 (EKD3) approved 620245
Facioscapulohumeral Muscular Dystrophy (FSHD1) approved 158900