Share your experiences by joining our Patient Engagement Forum.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 |
|---|---|---|---|
| Intellectual Disability, X-linked 102 (MRX102) | approved | 300958 | |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 (MRXHF1) | awaiting consideration | 309580 | |
| IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked) | approved | 304790 | |
| Isolated Growth Hormone Deficiency - type 1A (IGHD1A) | approved | 262400 | |
| Isolated Growth Hormone Deficiency, Type III, with Agammaglobulinemia (IGHD3) | approved | 307200 | |
| Isolated Microphthalmia 2 (MCOP2) | approved | 610093 | |
| Isolated Sulfite Oxidase Deficiency (ISOD) | approved | 272300 | |
| Jackson Weiss syndrome, OMIM | approved | 123150 | |
| Jalili Syndrome | approved | 217080 | |
| Jervell and Lange-Nielsen Syndrome 1 (JLNS1) | approved | 220400 | |
| Jervell and Lange-Nielsen Syndrome 2 (JLNS2) | approved | 612347 | |
| Joubert syndrome type 1 | approved | 213300 | |
| Joubert syndrome type 10 | approved | 300804 | |
| Joubert syndrome type 13 | approved | 614173 | |
| Joubert syndrome type 14 | approved | 614424 | |
| Joubert syndrome type 15 | approved | 614464 | |
| Joubert syndrome type 16 | approved | 614465 | |
| Joubert syndrome type 17 | approved | 614615 | |
| Joubert syndrome type 18 | approved | 614815 | |
| Joubert syndrome type 2 | approved | 608091 | |
