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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
Maple Syrup Urine Disorder (MSUD) approved 248600
Marfan Syndrome (MFS) approved 154700
Meckel-Gruber Syndrome Types 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 and 11 approved 249000, 603194, 607361, 611134, 611561, 612284, 267010, 613885, 614209, 614175 and 615397
Medium-Chain Acyl-CoA Dehydrogenase Deficiency approved 201450
MEDNIK Syndrome; MEDNIK approved 609313
Medullary Cystic Kidney Disease 2 (MCKD2) (also known as Autosomal Dominant Tubulointerstitial Kidney Disease due to Uromodulin Mutations (ADTKD-UMOD) approved 603860
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 (MPPH1) approved 603387
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 (MPPH2) approved 615937
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 (MPPH3) approved 615938
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency (DHFR) approved 613839
MEGDEL syndrome (3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome) approved 614739
MEHMO Syndrome; MEHMO approved 300148
Melanoma Pancreatic Cancer Syndrome approved 606719
Melanoma, cutaneous malignant, susceptibility to, 10 (CMM10) approved 615848
Melanoma, cutaneous malignant, susceptibility to, 2 (CMM2) approved 155601
Melanoma, cutaneous malignant, susceptibility to, 3 (CMM3) approved 609048
Melanoma-Astrocytoma Syndrome approved 155755
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes) approved 540000
Melnick Needles Syndrome approved 309350
Menkes disease approved 309400