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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
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
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) approved 617193
Epidermolysis Bullosa Simplex 1A, Generalized Severe; EBS1A approved 131760
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate; EBS1B approved 131900
Epidermolysis Bullosa Simplex 1C, Localised (EBS1C) approved 131800
Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate or Severe, Autosomal Recessive; EBS1D approved 601001
Epidermolysis Bullosa Simplex 2B, Generalized Intermediate; EBS2B approved 619588
Epidermolysis Bullosa Simplex 2C, Localised (EBS2C) approved 619594
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate or Severe, Autosomal Recessive; EBS2D approved 619599
Epidermolysis Bullosa Simplex 2E, with Migratory Circinate Erythema; EBS2E approved 609352
Epidermolysis Bullosa Simplex 2F, with Mottled Pigmentation; EBS2F approved 131960
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive; EBS5D approved 616487
Epidermolysis Bullosa Simplex 6, Generalized, with Scarring and Hair Loss; EBS6 approved 617294
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness; EBS7 approved 609057
Epidermolysis bullosa simplex, with muscular dystrophy (EBS-MD) approved 226670