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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 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, Type 4A (CMT4A) approved 214400
Charcot-Marie-Tooth Disease, Type 4B1 (CMT4B1) approved 601382
Charcot-Marie-Tooth Disease, Type 4B2 (CMT4B2) approved 604563
Charcot-Marie-Tooth Disease, Type 4B3 (CMT4B3) approved 615284
Charcot-Marie-Tooth Disease, Type 4C (CMT4C) approved 601596
Charcot-Marie-Tooth Disease, Type 4D (CMT4D) approved 601455
Charcot-Marie-Tooth Disease, Type 4F (CMT4F) approved 614895
Charcot-Marie-Tooth Disease, Type 4G (CMT4G) approved 605285
Charcot-Marie-Tooth Disease, Type 4H (CMT4H) approved 609311
Charcot-Marie-Tooth Disease, Type 4K (CMT4K) approved 616684
CHARGE Syndrome approved 214800
Cherubism approved 118400
Cholestasis, progressive familial intrahepatic 2 (PFIC2) approved 601847
Cholestasis, progressive familial intrahepatic 3 (PFIC3) approved 602347
Cholestasis, progressive familial intrahepatic 4 (PFIC4) approved 615878
Cholestasis, progressive familial intrahepatic 5 (PFIC5) approved 617049