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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
Congenital Disorder of Glycosylation, Type 1y; CDG1Y approved 300934
Congenital Disorder of Glycosylation, Type Ik; CDG1K approved 608540
Congenital Dyserythropoietic Anaemia types 1a, 1b and 2 approved 224120, 615631, 224100
Congenital Fibrosis of the extraocular muscles (CFEOM1 and CFEOM3B) approved 135700
Congenital Heart Defects, Multiple Types, 2 (CHTD2) approved 614980
Congenital Heart Defects, Multiple Types, 4 (CHTD4) approved 615779
Congenital Heart Defects, Multiple Types, 5 (CHTD5) approved 617912
Congenital Heart Defects, Multiple Types, 6 (CHTD6), autosomal dominant and autosomal recessive approved 613854
Congenital Heart Defects, Multiple Types, 7 (CHTD7) approved 618780
Congenital Heart Defects, Multiple Types, 8, with or without Heterotaxy (CHTD8) approved 619657
Congenital Heart Defects, Multiple Types, 9 (CHTD9) approved 620294
Congenital Hemidysplasia with Ichthyosiform Erythrodema and Limb Defects (CHILD) syndrome approved 308050
Congenital hereditary cataract, type 10 (CTRCT10) approved 600881
Congenital hereditary cataract, type 11 (CTRCT11) approved 610623
Congenital hereditary cataract, type 12 (CTRCT12) approved 611597
Congenital hereditary cataract, type 15 (CTRCT15) approved 615274
Congenital hereditary cataract, type 16 (CTRCT16) approved 613763
Congenital hereditary cataract, type 17 (CTRCT17) approved 611544
Congenital hereditary cataract, type 18 (CTRCT18) approved 610019
Congenital hereditary cataract, type 19 (CTRCT19) approved 615277