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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
Deafness, Autosomal Recessive 68 (DFNB68) approved 610419
Deafness, Autosomal Recessive 7 (DFNB7) approved 600974
Deafness, Autosomal Recessive 70, with or without Adult-Onset Neurodegeneration (DFNB70) approved 614934
Deafness, Autosomal Recessive 74 (DFNB74) approved 613718
Deafness, Autosomal Recessive 8/10 (DFNB8/10) approved 601072
Deafness, Autosomal Recessive 84A (DFNB84A) approved 613391
Deafness, Autosomal Recessive 89 (DFNB89) approved 613916
Deafness, Autosomal Recessive 9 (DFNB9) approved 601071
Deafness, Autosomal Recessive 93 (DFNB93) approved 614899
Deafness, autosomal recessive, 29 (DFNB29) approved 614035
Deafness, Congenital, with Inner Ear Agenesis, Microtia and Microdontia approved 610706
Dehydrated Hereditary Stomatocytosis 1 with or without Pseudohyperkalemia and/or Perinatal Edema (DHS1) approved 194380
Dentatorubral-Pallidoluysian Atrophy (DRPLA) approved 125370
Dentinogenesis Imperfecta 1 (DGI1) approved 125490
Denys-Drash Syndrome (DDS) approved 194080
Desbuquois Dysplasia 1 (DBQD1) approved 251450
Developmental and Epileptic Encephalopathy 57 (DEE57) approved 617771
Developmental and Epileptic Encephalopathy 1 (DEE1) approved 308350
Developmental and Epileptic Encephalopathy 105 with Hypopituitarism (DEE105) approved 619983
Developmental and Epileptic Encephalopathy 106 (DEE106) approved 620028