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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
Christianson syndrome approved 300243
Chromosomal rearrangements (various) approved
Chudley-McCullough Syndrome (CMCS) approved 604213
Citrullinaemia type 1 approved 215700
Classical Ehlers Danlos Syndrome approved 130000, 130010
Cleidocranial Dysplasia 1 (CLCD1) approved 119600
Cockayne Syndrome type A and B approved 216400, 133540
Coenzyme Q10 Deficiency, Primary, 1 (COQ10D1) approved 607426
Coenzyme Q10 Deficiency, Primary, 4 (COQ10D4) approved 612016
Coffin-Lowry Syndrome (CLS) approved 303600
Cohen Syndrome (COH1) approved 216550
Combined Immunodeficiency, X-linked (CIDX) approved 312863
Combined Oxidative Phosphorylation Deficiency 1 (COXPD1) approved 609060
Combined Oxidative Phosphorylation Deficiency 10 (COXPD10) approved 614702
Combined Oxidative Phosphorylation Deficiency 11 (COXPD11) approved 614922
Combined Oxidative Phosphorylation Deficiency 12 (COXPD12) approved 614924
Combined Oxidative Phosphorylation Deficiency 13 (COXPD13) approved 614932
Combined Oxidative Phosphorylation Deficiency 14 (COXPD14) approved 614946
Combined Oxidative Phosphorylation Deficiency 15 (COXPD15) approved 614947
Combined Oxidative Phosphorylation Deficiency 16 (COXPD16) approved 615395