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 |
|---|---|---|---|
| Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy) due to COX IV deficiency | approved | 185620 | |
| Leigh Syndrome (LS) | approved | 256000 | |
| Leigh syndrome (subacute necrotising encephalopathy of childhood) | approved | 516000, 516002, 516005, 516006 | |
| Leopard Syndrome 1 (LPRD1) | approved | 151100 | |
| Lesch-Nyhan Syndrome (LNS) | approved | 300322 | |
| Lethal Congenital Contracture Syndrome 1 (LCCS1) | approved | 253310 | |
| Lethal Congenital Contracture Syndrome 10 (LCCS10) | approved | 617022 | |
| Lethal Congenital Contracture Syndrome 11 (LCCS11) | approved | 617194 | |
| Lethal Congenital Contracture Syndrome 7 (LCCS7) | approved | 616286 | |
| Lethal Congenital Contracture Syndrome 9 (LCCS9) | approved | 616503 | |
| Lethal Multiple Pterygium Syndrome (LMPS) | approved | 253290 | |
| Leukaemia, acute myeloid, related to GATA2 mutation | approved | 601626 | |
| Leukocyte Adhesion Deficiency (Type I) (LAD)* | approved | 116920 | |
| Leukodystrophy, Progressive, Early Childhood-Onset (PLDECO) | approved | 617762 | |
| Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) | awaiting consideration | 611105 | |
| Leukoencephalopathy with Vanishing White Matter 1 (VWM1) | approved | 603896 | |
| Li-Fraumeni Syndrome (LFS) | approved | 151623 | |
| Lichtenstein-Knorr Syndrome (LIKNS) | approved | 616291 | |
| LIG4 Syndrome | approved | 606593 | |
| Limb-Mammary Syndrome (LMS) | approved | 603543 | |
