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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
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 4 (PGL4) approved 115310
Paramyotonia Congenita (PMC) approved 168300
Paramyotonia Congenita of von Eulenburg approved 168300
Parathyroid Adenomatosis, Familial Cystic approved 145001
Parkinson’s disease 1 approved 168601
Parkinson’s disease 4 approved 605543
Parkinson's disease 8 approved 607060
Paroxysmal extreme pain disorder (PEPD) approved 167400
Paroxysmal Nonkinesigenic Dyskinesia 1; PNKD1 approved 118800
Partial androgen insensitivity syndrome due to defects in the androgen receptor gene approved 312300
Partial Lipodystrophy, Familial Type 2 (FPLD2) approved 151660
Partington Syndrome; PRTS approved 309510
Partner and Localizer of BRCA2 (PALB2) approved 610355