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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
Retinitis Pigmentosa 79 (RP79) approved 617460
Retinitis Pigmentosa 83 (RP83) approved 618173
Retinitis Pigmentosa 9 (RP9) approved 180104
Retinitis Pigmentosa 91 (RP91) approved 153870
Retinitis Pigmentosa Type 11 (RP11) approved 600138
Retinitis Pigmentosa type 7 (RP7) approved 608133
Retinoblastoma (RB1) approved 180200
Rett Syndrome (RTT) and Neonatal Encephalopathy approved 312750, 300673
Rhabdomyosarcoma, embryonal 2 approved 180295
Rhesus disease/ Haemolytic Disease of the Newborn (HDN) approved
Rhizomelic Chondrodysplasia Punctata (RCDP1) Type 1 approved 215100
Rhizomelic Chondrodysplasia Punctata (RCDP2) Type 2 approved 222765
Rhizomelic Chondrodysplasia Punctata (RCDP3) Type 3 approved 600121
Rhizomelic Chondrodysplasia Punctata (RCDP5) Type 5 approved 616716
Riddle Syndrome (RIDL) approved 611943
Right Atrial Isomerism (RAI) approved 208530
Rigid spine muscular dystrophy approved 602771
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (RMFSL) approved 614498
Robinow Syndrome Autosomal Dominant-Type 1 (DRS1) approved 180700
Robinow Syndrome Autosomal Dominant-Type 2 (DRS2) approved 616331