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 |
|---|---|---|---|
| Asparagine Synthetase Deficiency (ASNSD) | awaiting consideration | 615574 | |
| Ataxia Telangiectasia (AT) | approved | 208900 | |
| Ataxia-Pancytopenia syndrome; ATXPC | approved | 159550 | |
| 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 | |
