Skip to main content

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 44 (SCA44) approved 617691
Spinocerebellar ataxia 47 (SCA47) approved 617931
Spinocerebellar ataxia 5 (SCA5) approved 600224
Spinocerebellar ataxia 8 (SCA8) approved 608768
Spinocerebellar Ataxia Autosomal Recesive 20, SCAR20 (SNX14-related cerebellar hypoplasia) approved 616354
Spinocerebellar Ataxia Type 1 (SCA1) approved 164400
Spinocerebellar ataxia type 14 approved 605361
Spinocerebellar Ataxia Type 2 (SCA2) approved 183090
Spinocerebellar Ataxia Type 3 (SCA 3) (Machado Joseph Disease) approved 109150
Spinocerebellar Ataxia Type 6 (SCA6) approved 183086
Split hand/foot malformation 3 (SHFM3) approved 246560
Split hand/foot malformation with long bone deficiency type 3 (SHFLD3) approved 612576
Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI), approved 607944
Spondyloepimetaphyseal dysplasia, Strudwick approved 184250
Spondyloepiphyseal Dysplasia Congenita approved 183900
Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) approved 313400
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (SEDCJD) approved 143095
Spondylo-epiphyseal dysplasia, Maroteaux type approved 184095
Spondylometaepiphyseal Dysplasia Short Limb Hand type (SMED-SL) approved 271665
Spondylometaphyseal Dysplasia, Axial (SMDAX) approved 602271