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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 13 (RP13) approved 600059
Retinitis Pigmentosa 18 (RP18) approved 601414
Retinitis Pigmentosa 2 (RP2) approved 312600
Retinitis Pigmentosa 27 (RP27) approved 613750
Retinitis Pigmentosa 31 (RP31) approved 609923
Retinitis Pigmentosa 33 (RP33) approved 610359
Retinitis Pigmentosa 4 (RP4) approved 613731
Retinitis Pigmentosa 42 (RP42) approved 612943
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