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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
Congenital Heart Defects, Multiple Types, 4 (CHTD4) approved 615779
Congenital Heart Defects, Multiple Types, 5 (CHTD5) approved 617912
Congenital Heart Defects, Multiple Types, 6 (CHTD6), autosomal dominant and autosomal recessive approved 613854
Congenital Heart Defects, Multiple Types, 7 (CHTD7) approved 618780
Congenital Heart Defects, Multiple Types, 8, with or without Heterotaxy (CHTD8) approved 619657
Congenital Heart Defects, Multiple Types, 9 (CHTD9) approved 620294
Congenital Hemidysplasia with Ichthyosiform Erythrodema and Limb Defects (CHILD) syndrome approved 308050
Congenital Mitochondrial Encephalomyopathy approved 500002
Congenital Myopathy 10A, Severe Variant (CMYP10A) approved 614399
Congenital Myopathy 10B, Mild Variant (CMYP10B) approved 620249
Congenital Myopathy 14 (CMYP14) approved 618414
Congenital Myopathy 16 (CMYP16) approved 618524
Congenital Myopathy 17 (CMYP17) approved 618975
Congenital Myopathy 18 (CMYP18) approved 620246
Congenital Myopathy 19 (CMYP19) approved 618578
Congenital Myopathy 22A, Classic (CMYP22A) approved 620351
Congenital Myopathy 22B, Severe Fetal (CMYP22B) approved 620369
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive (CMYP2B) approved 620265
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant (CMYP2C) approved 620278
Congenital Myopathy 4A, Autosomal Dominant (CMYP4A) approved 255310