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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
Stuve-Wiedemann Syndrome (Schwartz-Jampel Type 2 syndrome) approved 601559
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) approved 271980
Sudden Cardiac Failure, Alcohol Induced (SCFAI) approved 617223
Sudden Cardiac Failure, Infantile (SCFI) approved 617222
Surfactant Metabolism Dysfunction, Pulmonary Type 1 (SMDP1) approved 265120
Surfactant Metabolism Dysfunction, Pulmonary Type 3 (SMDP3) approved 610921
Surfactant Metabolism Dysfunction, Pulmonary, Type 2 (SMDP2) approved 610913
Susceptibility to breast cancer due to a mutation in the c.7271T>G Ataxia-Telangiectasia Mutated (ATM) Gene approved *607585
Syndromic Microphthalmia 1 (MCOPS1) (Lenz syndrome) approved 309800
Syndromic Microphthalmia 12 (MCOPS12) approved 615524
Tay Sachs Disease (infantile onset) (TSD) approved 272800
Temtamy syndrome (TEMTYS) approved 218340
Thiamine Metabolism Dysfunction Syndrome 2 approved 607483
Thiamine Metabolism Dysfunction Syndrome 3 approved 607196
Thiamine Metabolism Dysfunction Syndrome 5 approved 614458
Thiamine-responsive Megaloblastic Anaemia approved 249270
Thrombocytopenia 2 approved 188000
Thrombocytopenia 5 approved 616216
Thrombocytopenia Absent Radius (TAR) Syndrome approved 274000
Timothy Syndrome (TS) approved 601005