Skip to main content

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
Multiple Congenital Anomalies Hypotonia – Seizures Syndrome 2 (MCAHS2) approved 300868
Multiple Congenital Anomalies Hypotonia – Seizures Syndrome 3 (MCAHS3) approved 615398
Multiple Endocrine Neoplasia Type 2A (MEN 2A) approved 171400
Multiple Endocrine Neoplasia type 2B (MEN 2B) approved 162300
Multiple Endocrine Neoplasia Type I (MEN1) approved 131100
Multiple Epiphyseal Dysplasia Type 5 (MED5) approved 607078
Multiple Exostoses Type 1 approved 133700
Multiple Joint Dislocations, Short Stature and Craniofacial Dysmorphism with or without Congenital Heart Defects (JDSCD) approved 245600
Multiple Lentigines Syndrome (LEOPARD Syndrome) approved 151100
Multiple Pterygium Syndrome, Escobar variant, EVMPS approved 265000
Multiple Sulfatase Deficiency (MSD) approved 272200
Muscular Dystrophy (Becker) (BMD) approved 300376
Muscular Dystrophy (Duchenne)(DMD) approved 310200
Muscular Dystrophy (Oculopharangeal)(OPMD) approved 164300
Muscular dystrophy, congenital, Davignon-Chauveau type approved 617066
Muscular dystrophy, congenital, due to Integrin alpha-7 deficiency approved 613204
Muscular Dystrophy, Congenital, LMNA-related, (MDCL) - for cases where there is proven evidence of mosaicism in the blood or as a result of a second affected child approved 613205
Muscular dystrophy, congenital, megaconial type approved 602541
Muscular dystrophy, congenital, with cataracts and intellectual disability approved 617404
Muscular dystrophy, Limb-Girdle (LGMD) Type 1B approved 159001