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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
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
Holoprosencephaly 9 (HPE9) approved 610829
Holt Oram Syndrome approved 142900
Homocystinuria approved 236200
Homozygous familial hypercholesterolaemia (approved when homozygously inherited but not when heterozygously inherited) approved 143890
Huntington Disease (Huntington Chorea) (HD) approved 143100
Huntington disease-like (HDL1) approved 603218
Huppke-Brendel Syndrome (HPBDS) approved 614482
Hutchinson-Gilford Progeria Syndrome (HGPS) approved 176670
Hyaline Fibromatosis Syndrome (HFS) approved 228600
Hydrocephalus, Congenital, 1, (HYC1) approved 236600
Hydrocephalus, Congenital, 2, with or without Brain or Eye Anomalies (HYC2) approved 615219
Hydrocephalus, Congenital, 3, with Brain Anomalies (HYC3) approved 617967
Hydrocephalus, Congenital, 4, (HYC4) approved 618667
Hydrocephalus, Congenital, 5, Susceptibility to (HYC5) approved 620241