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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
Congenital Myopathy 4B, Autosomal Recessive (CMYP4B) approved 609284
Congenital Myopathy 5 with Cardiomyopathy (CMYP5) (previously known as Salih myopathy) approved 611705
Conradi-Hunermann-Happle Syndrome approved 302960
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
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
Craniosynostosis 3 (CRS3) approved 615314
Craniosynostosis 4 (CRS4) approved 600775
Creutzfeldt-Jakob Disease (CJD) approved 123400
Crigler-Najjar Syndrome Type 1 (CN1) approved 218800
Crouzon Syndrome approved 123500
Crouzon with Acanthosis Nigrans Syndrome (CAN) approved 612247
Currarino Syndrome approved 176450
Cutis Laxa, autosomal dominant 1 (ADCL1) approved 123700