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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
Lymphatic malformation 6, (LMPHM6) approved 616843
Lymphatic malformation 7, (LMPHM7) approved 617300
Lymphatic Malformation 9; LMPHM9 approved 619319
Lymphedema-Distichiasis Syndrome LPHDST approved 153400
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus approved 153400
Lymphoproliferative Syndrome, X-linked,1 (XLR) approved 308240
Mabry Syndrome (Hyperphosphatasia mental retardation syndrome-HPMRS), Type 1 approved 239300
Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) approved 617011
Mal De Meleda (MDM) approved 248300
Malignant Infantile Osteopetrosis approved 259700
Mandibuloacral Dysplasia with Type A Lipodystrophy; MADA approved 248370
Mandibuloacral Dysplasia with Type B Lipodystrophy; MADB approved 608612
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) awaiting consideration 603387
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency (DHFR) approved 613839