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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 |
|---|---|---|---|
| Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 (PFBMFT1) | awaiting consideration | 614742 | |
| Purine Nucleoside Phosphorylase Deficiency | awaiting consideration | 613179 | |
| Pycnodysostosis | approved | 265800 | |
| Pyogenic Arthritis, Pyoderma Gangrenosum and Acne Syndrome (PAPA) | approved | 604416 | |
| Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD) | approved | 312170 | |
| Pyruvate Dehydrogenase E1-Beta Deficiency (PDHBD) | approved | 614111 | |
| Pyruvate Dehydrogenase E2 Deficiency (PDHDD) | approved | 245348 | |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency (PDHXD) | approved | 245349 | |
| Pyruvate Dehydrogenase Phosphatase Deficiency (PDHPD) | approved | 608782 | |
| Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 (RUSAT1) | approved | 605432 | |
| Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 (RUSAT2) | approved | 616738 | |
| Rapp-Hodgkin Syndrome (RHS) | approved | 129400 | |
| Recurrent Digynic Triploidy (due to publishing limitations, we can't provide a link to the relevant minutes - please contact HFEA.Licensing@HFEA.gov.uk if you would like to be sent a copy) | approved | ||
| Recurrent infections with encephalopathy, hepatic dysfunction and cardiovascular malformations (FADD deficiency) | approved | 613759 | |
| Reducing Body Myopathy, X-Linked 1A, Severe, with Infantile or Early Childhood Onset (RBMX1A) | approved | 300717 | |
| Renal cell carcinoma, papillary, 1 (RCCP1) | approved | 605074 | |
| Renal Coloboma Syndrome | approved | 120330 | |
| Renal Cysts and Diabetes Syndrome (RCAD) | approved | 137920 | |
| Renal Hypodysplasia/Aplasia 3 (RHDA3) | awaiting consideration | 617805 | |
| Renal Tubular Dysgenesis (RTD) | approved | 267430 | |
