Skip to main content
The HFEA has launched its new Media Centre where you can find the latest news and information from us. Access it here.

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
Atypical Haemolytic Uraemic Syndrome (aHUS) type 4 approved 612924
Atypical Haemolytic Uraemic Syndrome (aHUS) type 5 approved 612925
Atypical Haemolytic Uraemic Syndrome (aHUS) type 6 approved 612926
Atypical Haemolytic Uraemic Syndrome (aHUS) type 7 approved 615008
Auditory Neuropathy and Optic Atrophy (ANOA) approved 617717
Auditory Neuropathy, Autosomal Recessive, 1 (AUNB1) approved 601071
Autosomal Dominant Acute Necrotizing Encephalopathy approved 608033
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 Dominant Polycystic Kidney Disease 1 (APKD1) approved 173900
Autosomal Dominant Retinitis Pigmentosa (AP37) approved 611131
Autosomal Dominant Retinitis Pigmentosa Type 4 approved 613731
Autosomal dominant vitreoretinochoroidopathy approved 193220
Autosomal recessive bestrophinopathy approved 611809
Autosomal recessive congenital hyperinsulinism approved 256450, 601820
Autosomal Recessive Deafness 77 (DFNB77) approved 613079
Autosomal recessive Deafness Type 1A (DFNB1A) approved 220290
Autosomal Recessive Dopa Responsive Dystonia approved 233910
Autosomal recessive Epidermolysis Bullosa Dystrophica (RDEB) approved 226600
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (ARSCIDBSD) approved 267500