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 |
|---|---|---|---|
| Congenital Myopathy 1B, Autosomal Recessive (CMYP1B) | approved | 255320 | |
| Congenital Myopathy 22A, Classic (CMYP22A) | approved | 620351 | |
| Congenital Myopathy 22B, Severe Fetal (CMYP22B) | approved | 620369 | |
| Congenital Myopathy 2A, Typical, Autosomal Dominant (CMYP2A) | approved | 161800 | |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive (CMYP2B) | approved | 620265 | |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant (CMYP2C) | approved | 620278 | |
| Congenital Myopathy 3 with Rigid Spine (CMYO3) | approved | 602771 | |
| Congenital Myopathy 4A, Autosomal Dominant (CMYP4A) - previously called Myopathy, Congenital, with Fiber-Type Disproportion (CFTD) | approved | 255310 | |
| Congenital Myopathy 4B, Autosomal Recessive (CMYP4B) | approved | 609284 | |
| Congenital Myopathy 5 with Cardiomyopathy (CMYP5) (previously known as Salih myopathy) | approved | 611705 | |
| Contractual Arachnodactyly, Congenital (CCA) | approved | 121050 | |
| Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A (CPSFS1A) | approved | 178110 | |
| Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis (ICCA) | approved | 602066 | |
| Cornelia De Lange Syndrome 1 (CDLS1) | awaiting consideration | 122470 | |
| Corpus Callosum, Agenesis of, with Abnormal Genitalia | approved | 300004 | |
| Cowden syndrome (CS)/PTEN Hamartoma Tumour Syndrome (PHTS) | approved | 601728, 158350, 153480, 605309 | |
| Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1 (CFSMR1) | approved | 213980 | |
| Craniofrontonasal syndrome (CFNS) | approved | 304110 | |
| Craniosynostosis 1 (CRS1) | approved | 123100 | |
| Craniosynostosis 2 (CRS2) | approved | 604757 | |
