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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
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects (ASD7) approved 108900
Auditory Neuropathy and Optic Atrophy (ANOA) approved 617717
Auditory Neuropathy, Autosomal Recessive, 1 (AUNB1) approved 601071
Autosomal dominant Dyskeratosis Congenita 1 (DKCA1) due to TERC mutation approved 127550
Autosomal dominant familial exudative vitreoretinopathy Types 1, 4 and 5 approved 133780, 613310, 601813
Autosomal recessive congenital hyperinsulinism approved 256450, 601820
Autosomal Recessive Retinitis Pigmentosa 37 (AP37) approved 611131
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (ARSCIDBSD) approved 267500
Axenfeld-Rieger Syndrome, Type 1 (RIEG1) approved 180500
Axenfeld-Rieger Syndrome, Type 3 (RIEG3) approved 602482
Bailey-Bloch Congenital Myopathy (BBCM) approved 255995
BAP1 tumour predisposition syndrome (BAP1-TPDS) approved 614327
Bardet-Biedl Syndrome (BBS1) approved 209900
Bardet-Biedl Syndrome 10 (BBS10) approved 615987
Bardet-Biedl Syndrome 12; BBS12 approved 615989
Bardet-Biedl Syndrome 13; BBS13 approved 615990
Bardet-Biedl Syndrome 16; BBS16 approved 615993
Bardet-Biedl Syndrome 19; BBS19 approved 615996
Bardet-Biedl Syndrome 2; BBS2 approved 615981
Bardet-Biedl Syndrome 4; BBS4 approved 615982