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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
Dystonia 4, Torsion, Autosomal Dominant; DYT4 approved 128101
Dystonia 6, Torsion; DYT6 approved 602629
Dystonia 9; DYT9 approved 601042
Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities; DYTOABG approved 617282
Dystonia, Dopa-Responsive (DRD) approved 128230
Dystonia, Dopa-Responsive, with or without Hyperphenylalaninemia, Autosomal Recessive approved 233910
Ectodermal Dysplasia / Skin Fragility Syndrome (EDFSF) approved 604536
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 1 (EEC1) approved 129900
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (EEC3) approved 604292
Ehlers-Danlos Syndrome, Vascular Type (EDSVASC) approved 130050
Ehlers-Danlos periodontal type 1 (EDSPD1) approved 130080
Ehlers-Danlos periodontal type 2 (EDSPD2) approved 617174
Ehlers-Danlos Syndrome, Kyphoscoliotic, type 1 (EDSKSCL1) approved 225400
Ehlers-Danlos Syndrome, Kyphoscoliotic, type 2 (EDSKSCL2) approved 614557
Ellis-Van Crevald Syndrome (EVC) approved 225500
Emery-Dreifuss Muscular Dystrophy (x-linked) (EDMD) (Male embryos only) approved 310300
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant (EDMD2) for cases where there is proven evidence of mosaicism in the blood or as a result of a second affected child approved 181350
Emery-Dreifuss Muscular Dystrophy 3 , Autosomal Recessive (EDMD3) approved 616516
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant (EDMD4) approved 612998
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant (EDMD5) approved 612999