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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
Oculocutaneous Albinism Type 1A (OCA1A) approved 203100
Oculocutaneous Albinism Type 1B (OCA1B) approved 606952
Oculocutaneous Albinism Type 2 (OCA2) approved 203200
Oculodentodigital Dysplasia (ODDD) approved 164200
Oculodentodigital Dysplasia, Autosomal Recessive approved 257850
Oculopharyngeal Muscular Dystrophy (OPMD) approved 164300
Ohdo Syndrome, X-Linked; OHDOX approved 300895
Olmsted Syndrome, X-Linked (OLMSX) approved 300918
Omenn Syndrome approved 603554
Omodysplasia 1 (OMOD1) approved 258315
Omodysplasia 2 (OMOD2) approved 164745
Opitz GBBB Syndrome (GBBB) approved 300000
Opitz-Kaveggia Syndrome; OKS approved 305450
Optic Atrophy 1 (OPA1) approved 165500
Ornithine Transcarbamylase Deficiency, Hyperammonemia due to approved 311250
Orofaciodigital Syndrome I (OFD1) approved 311200
Orofaciodigital syndrome IV (OFD4) approved 258860
Orofaciodigital Syndrome V (OFD5) approved 174300
Orofaciodigital Syndrome VI (OFD6) approved 277170
Orofaciodigital Syndrome XIV (OFD14) approved 615948