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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
Diarrheoa 5 with tufting enteropathy congenital (DIAR5) approved 613217
Dihydrolipoamide Dehydrogenase Deficiency (DLDD) approved 246900
Distal Hereditary Motor Neuropathy type IIB approved 608634
Distal Renal Tubular Acidosis with progressive nerve deafness approved 602722, 267300
Dominant Dystrophic Epidermolysis Bullosa approved 131750
Donnai-Barrow Syndrome approved 222448
Donohue Syndrome approved 246200
Dopamine Responsive Dystonia (DRD) approved 128230
Downs Syndrome approved 190685
Doyne honeycomb retinal dystrophy (DHRD) approved 126600
Dravet Syndrome (DEE6A) approved 607208
Duane-radial ray syndrome (Okihiro syndrome, acro-renal-ocular syndrome, SALL4-related Holt Oram syndrome) approved 607323
Dyskeratosis congenita (Male embryos only) approved 305000
Dyskeratosis Congenita types A2 and B4, due to TERT mutation approved 613989
Dyskinesia, Limb and Orofacial, Infantile-Onset (IOLOD) approved 616921
Dystonia 1 Torsion Autosomal Dominant (DYT1) approved 128100
Dystonia 12; DYT12 approved 128235
Dystonia 16; DYT16 approved 612067
Dystonia 2, Torsion, Autosomal Recessive; DYT2 approved 224500
Dystonia 24; DYT24 approved 615034