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 Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type (MRXSSR) | approved | 309583 | |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type (MRXST) | approved | 309590 | |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type (WTS) | approved | 309585 | |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type (MRXSW) | approved | 300699 | |
| Intellectual Developmental Disorder, X-Linked, with Panhypopituitarism | approved | 300123 | |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 (MRXHF1) | approved | 309580 | |
| Intellectual Disability, Autosomal Recessive 12 | approved | 611090 | |
| Intellectual Disability, X-linked 102 (MRX102) | approved | 300958 | |
| Isolated Growth Hormone Deficiency, Type IA (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 | |
| ITSN1-related disorder | awaiting consideration | no OMIM number | |
| Jackson-Weiss syndrome (JWS) | 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 1 (JBTS1) | approved | 213300 | |
| Joubert Syndrome 10 (JBTS10) | approved | 300804 | |
| Joubert Syndrome 13 (JBTS13) | approved | 614173 | |
