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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
Radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 (RUSAT2) approved 616738
Rapp-Hodgkin Syndrome (RHS) approved 129400
Recurrent Digynic Triploidy approved
Recurrent hydatidiform mole (HYDM1) approved 231090
Recurrent infections with encephalopathy, hepatic dysfunction and cardiovascular malformations (FADD deficiency) approved 613759
Renal cell carcinoma, papillary, 1 (RCCP1) approved 605074
Renal Coloboma Syndrome approved 120330
Renal Cysts and Diabetes (RCAD) approved 137920
Renal Tubular Dysgenesis (RTD) approved 267430
Renal-Hepatic-Pancreatic Dysplasia 1; RHPD1 approved 208540
Renal-Hepatic-Pancreatic Dysplasia 2; RHPD2 approved 615415
Renpenning Syndrome 1; RENS1 approved 309500
Retinal macular dystrophy 2 approved 608051
Retinitis Pigmentosa (autosomal dominant) approved 180100
Retinitis Pigmentosa (RP3) (x-linked) approved 300029
Retinitis Pigmentosa (x-linked) approved 300455
Retinitis Pigmentosa 10 (RP10) approved 180105
Retinitis Pigmentosa 13 (RP13) approved 600059
Retinitis Pigmentosa 18 (RP18) approved 601414
Retinitis pigmentosa 2 (RP2) approved 312600