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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
Joubert syndrome type 20 approved 614970
Joubert syndrome type 21 approved 615636
Joubert syndrome type 22 approved 615665
Joubert syndrome type 23 approved 616490
Joubert syndrome type 24 approved 616654
Joubert syndrome type 25 approved 616781
Joubert syndrome type 26 approved 616784
Joubert syndrome type 3 approved 608629
Joubert syndrome type 4 approved 609583
Joubert syndrome type 5 approved 610188
Joubert syndrome type 6 approved 610688
Joubert syndrome type 7 approved 611560
Joubert syndrome type 8 approved 612291
Joubert syndrome type 9 approved 612285
Junctional Epidermolysis Bullosa (Herlitz type) approved 226700
Juvenile Polyposis Syndrome (JPS) approved 174900
Kabuki Syndrome Type 1 approved 147920
Kabuki Syndrome Type 2 approved 300867
Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS) approved 530000, 557000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive; KIDAR, approved 242150