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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
Muscular dystrophy, limb-girdle, autosomal recessive 17 approved 613723
Muscular dystrophy, limb-girdle, type 2C approved 253700
Muscular dystrophy, limb-girdle, type 2S approved 615356
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), Type B, 1 (MDDGB1) approved 613155
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), Type B, 14 (MDDGB14) approved 615351
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), Type B, 2 (MDDGB2) approved 613156
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), Type B, 3 (MDDGB3) approved 613151
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), Type B, 6 (MDDGB6) approved 608840
Muscular Dystrophy-Dystroglycanopathy (Congenital with or without Impaired Intellectual Development), Type B, 5 (MDDGB5) approved 606612
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C1 approved 609308
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C5 approved 607155
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C7 approved 616052
Muscular dystrophy-dystroglycanopathy, type A1 (Walker Warburg Syndrome) approved 236670
Muscular dystrophy-dystroglycanopathy, type A3 (muscle-eye-brain disease) approved 253280
Muscular dystrophy-dystroglycanopathy, type A5 approved 613153
Muscular dystrophy-dystroglycanopathy, types A2, A4, A6-A8 and A10-A14 approved 613150, 253800, 613154, 614643 614830, 615041, 615181, 615249, 615287, 615350
Myasthenic Congenital Syndrome Type 5 (CMS5) approved 603034
Myasthenic syndrome, congenital, 10 approved 254300
Myasthenic syndrome, congenital, 11 approved 616326
Myasthenic syndrome, congenital, 12 approved 610542