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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
Charcot-Marie-Tooth Disease, Axonal, Type 2HH (CMT2HH) approved 619574
Charcot-Marie-Tooth Disease, Axonal, Type 2J (CMT2J) approved 607736
Charcot-Marie-Tooth Disease, Axonal, Type 2K (CMT2K) approved 607831
Charcot-Marie-Tooth Disease, Axonal, Type 2M (CMT2M) approved 606482
Charcot-Marie-Tooth Disease, Axonal, Type 2N (CMT2N) approved 613287
Charcot-Marie-Tooth Disease, Axonal, Type 2O (CMT2O) approved 614228
Charcot-Marie-Tooth disease, axonal, type 2P (CMT2P) approved 614436
Charcot-Marie-Tooth Disease, Axonal, Type 2R (CMT2R) approved 615490
Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) approved 616155
Charcot-Marie-Tooth Disease, Axonal, Type 2W (CMT2W) approved 616625
Charcot-Marie-Tooth Disease, Axonal, Type 2X (CMT2X) approved 616668
Charcot-Marie-Tooth Disease, Axonal, Type 2Y (CMT2Y) approved 616687
Charcot-Marie-Tooth Disease, Axonal, Type 2Z (CMT2Z) approved 616688
Charcot-Marie-Tooth Disease, axonal, with vocal cord paresis, autosomal recessive approved 607706
Charcot-Marie-Tooth Disease, Recessive Intermediate A (CMTRIA) approved 608340
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 (CMTX1) approved 302800
CHARGE Syndrome approved 214800
Cherubism approved 118400
Cholestasis, Progressive Familial Intrahepatic, 10 (PFIC10) approved 619868
Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2) approved 601847