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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
Spinocerebellar Ataxia, Autosomal Recessive 13 (SCAR13) approved 614831
Spinocerebellar Ataxia, Autosomal Recessive 14 (SCAR14) approved 615386
Spinocerebellar Ataxia, Autosomal Recessive 16 (SCAR16) approved 615768
Spinocerebellar Ataxia, Autosomal Recessive 17 (SCAR17) approved 616127
Spinocerebellar Ataxia, Autosomal Recessive 18 (SCAR18) approved 616204
Spinocerebellar Ataxia, Autosomal Recessive 2 (SCAR2) approved 213200
Spinocerebellar Ataxia, Autosomal Recessive 21 (SCAR21) approved 616719
Spinocerebellar Ataxia, Autosomal Recessive 23 (SCAR23) approved 616949
Spinocerebellar Ataxia, Autosomal Recessive 29 (SCAR29) approved 619389
Spinocerebellar Ataxia, Autosomal Recessive 30 (SCAR30) approved 619405
Spinocerebellar Ataxia, Autosomal Recessive 31 (SCAR31) approved 619422
Spinocerebellar Ataxia, Autosomal Recessive 32 (SCAR32) approved 619862
Spinocerebellar Ataxia, Autosomal Recessive 4 (SCAR4) approved 607317
Spinocerebellar Ataxia, Autosomal Recessive 7 (SCAR7) approved 609270
Spinocerebellar Ataxia, Autosomal Recessive 8 (SCAR8) approved 610743
Split hand/foot malformation 3 (SHFM3) approved 246560
Split hand/foot malformation with long bone deficiency type 3 (SHFLD3) approved 612576
Split-Hand/Foot Malformation 4 (SHFM4) awaiting consideration 605289
Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI), approved 607944
Spondyloepimetaphyseal dysplasia, Strudwick approved 184250