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PGT-M conditions

This table shows all PGT-M conditions currently approved and awaiting consideration by the HFEA.

Please note that we are updating this database, and some approved conditions may not be displayed. If you are unsure if a condition has been approved or not, please contact pgtm@hfea.gov.uk.

Condition name Status OMIM number Documents
Duane-radial ray syndrome (Okihiro syndrome, acro-renal-ocular syndrome, SALL4-related Holt Oram syndrome) approved 607323
Dyskeratosis congenita (Male embryos only) approved 305000
Dyskeratosis Congenita types A2 and B4, due to TERT mutation approved 613989
Dystonia 1 Torsion Autosomal Dominant (DYT1) approved 128100
Ectodermal dysplasia / skin fragility syndrome approved 604536
Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate syndrome 3 (EEC3) approved 604292
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC) approved 129900
Ehlers-Danlos Type IV approved 130050
Elastin (ELN)-related Supravalvular Aortic Stenosis approved 185500
Ellis-Van Crevald Syndrome approved 225500
Emery-Dreifuss Muscular Dystrophy (x-linked) (EDMD) (Male embryos only) approved 310300
Emery-Dreifuss muscular dystrophy 4 (EDMD4) approved 612998
Emery-Dreifuss muscular dystrophy 5 (EDMD5) approved 612999
Emery-Dreifuss muscular dystrophy 6 X-Linked (EDMD6) approved 300696
Emery-Dreifuss muscular dystrophy 7 (EDMD7) approved 614302
Emery-Dreifuss Muscular Dystrophy type 2 - 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 type 3 approved 616516
Epidermolysis bullosa simplex, with muscular dystrophy (EBS-MD) approved 226670
Epidermolysis bullosa simplex, with pyloric atresia (EBSPA) approved 612138
Epidermolysis bullosa, junctional, with pyloric stenosis or pyloric atresia approved 226730