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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
Osteogenesis Imperfecta type XIV (OI type XIV) approved 615066
Osteogenesis Imperfecta type XV (OI type XV) approved 615220
Osteogenesis Imperfecta, Type XIX (OI19) approved 301014
Osteopetrosis with Renal Tubular Acidosis (OPTB3) approved 259730
Osteopetrosis, Autosomal Recessive 5 (OPTB5) and Osteopetrosis, Infantile Malignant 3 approved 259720
Ostheopathia Striata with Cranial Sclerosis (OSCS) approved 300373
Otodental Dysplasia approved 166750
Otopalatodigital syndrome Type 2 (OPD2) approved 304120
Otopalatodigital type 1 approved 311300
Pachyonychia Congenita Type 1 approved 167200
Pachyonychia Congenita Type 2 approved 167210
Pachyonychia Congenita Type 3 approved 615726
Pachyonychia Congenita Type 4 approved 615728
Palmoplantar keratoderma, epidermolytic (EPPK) approved 144200
Palmoplantar keratoderma, non-epidermolytic (NEPPK) approved 600962
Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse approved 615735
Panhypopituitarism, X-linked; PHPX approved 312000
Paragangliomas 1 (PGL1) approved 168000
Paragangliomas 4 (PGL4) approved 115310
Paramyotonia Congenita (PMC) approved 168300