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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
Diamond-Blackfan Anemia 13 (DBA13) approved 615909
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis (DBA15) approved 606164
Diamond-Blackfan Anemia 21 (DBA21) approved 620072
Diamond-Blackfan Anemia 3 (DBA3) approved 610629
Diamond-Blackfan Anemia 4 (DBA4) approved 612527
Diamond-Blackfan Anemia 5 (DBA5) approved 612528
Diamond-Blackfan Anemia 6 (DBA6) approved 612561
Diamond-Blackfan Anemia 7 (DBA7) approved 612562
Diamond-Blackfan Anemia 8 (DBA8) approved 612563
Diamond-Blackfan Anemia 9 (DBA9) approved 613308
Diarrhea 1, Secretory Chloride, Congenital (DIAR1) approved 214700
Diarrhea 10, Protein Losing Enteropathy, type (DIAR 10) approved 618183
Diarrhea 11, Malabsorptive, Congenital (DIAR11) approved 618662
Diarrhea 2, with Microvillus Atrophy (DIAR2) approved 251850
Diarrhea 3, Secretory Sodium, Congenital Syndromic (DIAR3) approved 270420
Diarrhea 5, with Tufting Enteropathy, Congenital (DIAR5) approved 613217
Diarrhea 8, Secretory Sodium, Congenital (DIAR8) approved 616868
Diarrheoa 5 with tufting enteropathy congenital (DIAR5) approved 613217
Dihydrolipoamide Dehydrogenase Deficiency (DLDD) approved 246900
Distal Hereditary Motor Neuropathy type IIB approved 608634