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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 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
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
Spondylometaphyseal Dysplasia, Corner Fracture Type (SMDCF) approved 184255
Spondylometaphyseal dysplasia, Kozlowski type (SMDK) approved 184252
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type (SMDMDM) approved 613320
Spondylometaphyseal Dysplasia, Pagnamenta Type (SMDP) approved 619638
Spondylometaphyseal Dysplasia, Sedaghatian Type (SMDS) approved 250220
Stargardt disease type 1 approved 248200
Stickler Syndrome Type I, II, III and IV approved 108300, 609508, 604841, 184840, 614134
Striatal Degeneration, Autosomal Dominant 2 (ADSD2) approved 616922