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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
Cerebral Creatine Deficiency Syndrome 2 (CCDS2) approved 612736
Cerebral Creatine Deficiency Syndrome 3 (CCDS3) approved 612718
Cerebro-oculo-facial-skeletal syndrome Type 1 (COFS1) approved 214150
Cerebro-oculo-facial-skeletal syndrome Type 2 (COFS2) approved 610756
Cerebro-oculo-facial-skeletal syndrome Type 3 (COFS3) approved 616570
Cerebro-oculo-facial-skeletal syndrome type 4 (COFS4) approved 610758
Ceroid Lipofuscinosis, Neuronal, 1 (CLN1) approved 256730
Ceroid Lipofuscinosis, Neuronal, 10 (CLN10) approved 610127
Ceroid Lipofuscinosis, Neuronal, 2 (CLN2) approved 204500
Ceroid Lipofuscinosis, Neuronal, 5 (CLN5) approved 256731
Ceroid Lipofuscinosis, Neuronal, 6 (CLN6) approved 601780
Ceroid Lipofuscinosis, Neuronal, 7 (CLN7) approved 610951
Ceroid Lipofuscinosis, Neuronal, 8 (CLN8) approved 600143
Charcot Marie Tooth Disease, demyelinating type 1A (CMT1A) approved 118220
Charcot Marie Tooth Disease, Demyelinating Type 1B (CMT1B) approved 118200
Charcot Marie Tooth Disease, Demyelinating Type 1C (CMT1C) approved 601098
Charcot Marie Tooth Disease, Demyelinating Type 1D (CMT1D) approved 607678
Charcot Marie Tooth Disease, Demyelinating Type 1E (CMT1E) approved 118300
Charcot Marie Tooth Disease, Demyelinating Type 4A (CMT4A) approved 214400
Charcot Marie Tooth Disease, Demyelinating Type 4B1 (CMT4B1) approved 601382