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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
Leber congenital amaurosis type 9 approved 608553
Leber's Hereditary Optic Neuropathy (LHON) / Lebers Optic atrophy approved 535000
Leigh Syndrome approved 256000
Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy) due to COX IV deficiency approved 185620
Leigh syndrome (subacute necrotising encephalopathy of childhood) approved 516000, 516002, 516005, 516006
Leigh Syndrome, French Canadian type (LSFC) approved 220111
Lesch Nyhan syndrome approved 300322
Lethal congenital contracture syndrome 7 approved 616286
Lethal Congenital Contracture syndrome type 1 approved 253310
Lethal Congenital Contracture syndrome type 10 approved 617022
Lethal Congenital Contracture syndrome type 11 approved 617194
Lethal Congenital Contracture syndrome type 9 approved 616503
Lethal Multiple Pterygium Syndrome (LMPS) approved 253290
Leukaemia, acute myeloid, related to GATA2 mutation approved 601626
Leukocyte Adhesion Deficiency (Type I) (LAD)* approved 116920
Leukodystrophy, Progressive, Early Childhood-Onset (PLDECO) approved 617762
Leukoencephalopathy with Vanishing White Matter approved 603896
Lewy body dementia approved 127750
Lichtenstein-Knorr Syndrome (LIKNS) approved 616291
Li-Fraumeni Syndrome 1 approved 151623