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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
Microcephalic Osteodysplastic Primordial Dwarfism Type 1, (MOPD1) approved 210710
Microcephalic Osteodysplastic Primordial Dwarfism Type 2, (MOPD2) approved 210720
Microcephaly 1, Primary, Autosomal Recessive (MCPH1) approved 251200
Microcephaly 10, Primary, Autosomal Recessive (MCPH10) approved 615095
Microcephaly 13, Primary, Autosomal Recessive (MCPH13) approved 616051
Microcephaly 14, Primary, Autosomal Recessive (MCPH14) approved 616402
Microcephaly 15, Primary, Autosomal Recessive (MCPH15) approved 616486
Microcephaly 16, Primary, Autosomal Recessive (MCPH16) approved 616681
Microcephaly 17, Primary, Autosomal Recessive (MCPH17) approved 617090
Microcephaly 19, Primary, Autosomal Recessive (MCPH19) approved 617800
Microcephaly 2, Primary, Autosomal Recessive, with or without Cortical Malformations (MCPH2) approved 604317
Microcephaly 20, Primary, Autosomal Recessive (MCPH20) approved 617914
Microcephaly 21, Primary, Autosomal Recessive (MCPH21) approved 617983
Microcephaly 22, Primary, Autosomal Recessive (MCPH22) approved 617984
Microcephaly 25, Primary, Autosomal Recessive (MCPH25) approved 618351
Microcephaly 3, Primary, Autosomal Recessive (MCPH3) approved 604804
Microcephaly 4, Primary, Autosomal Recessive (MCPH4) approved 604321
Microcephaly 5, Primary, Autosomal Recessive (MCPH5) approved 608716
Microcephaly 6, Primary, Autosomal Recessive (MCPH6) approved 608393
Microcephaly 7, Primary, Autosomal Recessive (MCPH7) approved 612703