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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
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 X Deficiency approved 227600
Factor XIII deficiency approved 613225
Familial Adenomatous polyposis 1 (FAP1) approved 175100
Familial Adenomatous Polyposis 2 (FAP2) (MUTYH-associated polyposis) approved 608456
Familial Creutzfeldt-Jakob disease (fCJD), approved 123400
Familial Dysautonomia approved 223900
Familial Fatal Insomnia approved 600072
Familial Haemophagocytic Lymphohistiocytosis type 3 (FHL3) approved 608898
Familial Haemophagocytic Lymphohistiocytosis type 4 approved 603552
Familial Hemophagocytic Lymphohistiocytosis (FHL) approved 603553
Familial Hemophagocytic Lymphohistiocytosis 5 (FHL5) approved 613101