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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
Non-Ketotic Hyperglycinaemia (NKH)/ Glycine Encephalopathy (GCE) approved 605899
Noonan Syndrome approved 163950
Noonan Syndrome Type 10 approved 616564
Noonan Syndrome Type 2 approved 605275
Noonan Syndrome Type 3 approved 609942
Noonan Syndrome Type 4 approved 610733
Noonan Syndrome Type 5 approved 611553
Noonan Syndrome Type 6 approved 613224
Noonan Syndrome Type 7 approved 613706
Noonan Syndrome Type 8 approved 615355
Noonan Syndrome Type 9 approved 616559
Norrie Disease approved 310600
Oculocutaneous Albinism Type 1A (OCA1A) approved 203100
Oculocutaneous Albinism Type 1B (OCA1B) approved 606952
Oculocutaneous albinism type 2 approved 203200
Oculodentodigital Dysplasia (ODDD) approved 164200
Oculodentodigital Dysplasia (ODDD) approved 257850
Ohdo Syndrome, X-Linked; OHDOX approved 300895
Olmsted Syndrome, X-Linked (OLMSX) approved 300918
Omenn Syndrome approved 603554