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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
Hermansky-Pudlak Syndrome 2 (HPS2) approved 608233
Hermansky-Pudlak Syndrome 3 (HPS3) approved 614072
Hermansky-Pudlak Syndrome 4 (HPS4) approved 614073
Hermansky-Pudlak Syndrome 5 (HPS5) approved 614074
Hermansky-Pudlak Syndrome 6 (HPS6) approved 614075
Hermansky-Pudlak Syndrome 7 (HPS7) approved 614076
Hermansky-Pudlak Syndrome 8 (HPS8) approved 614077
Heterotaxy, visceral, 12, autosomal (HTX12) approved 619702
Heterotaxy, visceral, 6, autosomal (HTX6) approved 614779
Heterotaxy, visceral, 7, autosomal (HTX7) approved 616749
Heterotaxy, visceral, 8, autosomal (HTX8) approved 617205
Hirschsprung Disease 1 (HSCR1) approved 142623
Holoprosencephaly 11 (HPE11) approved 614226
Holoprosencephaly 12 with or without Pancreatic Agenesis (HPE12) approved 618500
Holoprosencephaly 13, X-Linked (HPE13) approved 301043
Holoprosencephaly 2 (HPE2) approved 157170
Holoprosencephaly 3 (HPE3) approved 142945
Holoprosencephaly 4 (HPE4) approved 142946
Holoprosencephaly 5 (HPE5) approved 609637
Holoprosencephaly 7 (HPE7) approved 610828