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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
Branchio-oculo-facial Syndrome (BOFS) approved 113620
Branchio-Oto-Renal Syndrome 1 (BOR1) approved 113650
BRCA 1 (increased susceptibility to breast cancer) approved 113705
Breast Ovarian Cancer Familial Susceptibility (BRCA2) approved 612555, 600185
Brooke-Spiegler Syndrome (BRSS) approved 605041
Brugada Syndrome 1 (BRGDA1) approved 601144
C3 Glomerulopathy 3 (C3G3) approved 614809
Calpainopathy approved 253600
Campomelic Dysplasia approved 114290
Canavan Disease approved 271900
Cantu Syndrome, Hypertrichotic Osteochondrodysplasia approved 239850
Capillary Malformation-Arteriovenous Malformation Type 1 (CM-AVM1) approved 608354
Capillary Malformation-Arteriovenous Malformation Type 2 (CM-AVM2) approved 618196
Cardiac Valvular Dysplasia, X-Linked (CVDPX) approved 314400
Cardiomyopathy, Dilated, 1A (CMD1A) approved 115200
Cardiomyopathy, Dilated, 1AA, with or without Left Ventricular Noncompaction (CMD1AA) approved 612158
Cardiomyopathy, Dilated, 1BB (CMD1BB) approved 612877
Cardiomyopathy, Dilated, 1CC (CMD1CC) approved 613122
Cardiomyopathy, Dilated, 1D (CMD1D) - previously named Familial Dilated Cardiomyopathy caused by mutations in TROPONIN T2 gene (TNNT2) approved 601494
Cardiomyopathy, Dilated, 1DD (CMD1DD) approved 613172