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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
Catecholaminergic Polymorphic Ventricular Tachycardia type 4 (CPVT4) approved 614916
Catecholaminergic Polymorphic Ventricular Tachycardia type 5 with or without muscle weakness (CPVT5) approved 615441
Catecholaminergic Polymorphic Ventricular Tachychardia 2 (CPVT2) approved 611938
Central Core Disease of Muscle (CCD) approved 117000
Central Hypoventilation Syndrome, Congenital, 1 (CCHS1) approved 209880
Centronuclear Myopathy (CNM1) approved 160150
Cerebellar Ataxia, Intellectual Disability and Dysequilibrium Syndrome Type 1 approved 224050
Cerebellar Ataxia, Intellectual Disability and Dysequilibrium Syndrome Type 2 approved 610185
Cerebellar Ataxia, Intellectual Disability and Dysequilibrium Syndrome Type 3 approved 613227
Cerebellar Ataxia, Intellectual Disability and Dysequilibrium Syndrome Type 4 approved 615268
Cerebral Autosomal Dominant Arteriopathy with Sub cortical infarcts and Leukoencephalopathy (CADASIL) approved 125310
Cerebral Cavernous Malformations (CCM) approved 116860
Cerebral Cavernous Malformations 3 (CCM3) approved 603285
Cerebral Creatine Deficiency Syndrome 1 (CCDS1) approved 300352
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