Skip to main content
HFEA wins prestigious award for data dashboard.Our award-winning dashboard gives users the opportunity to explore HFEA data and find statistics on their own areas of interest. Find out more here.

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
Myopathy, Myofibrillar 3 approved 609200
Myopathy, Myofibrillar 4 approved 609452
Myopathy, Myofibrillar 5 approved 609524
Myopathy, Myofibrillar 6 approved 612954
Myopathy, Myofibrillar 7 approved 617114
Myopathy, Myofibrillar 8 approved 617258
Myopathy, Myofibrillar 9 with early respiratory failure approved 603689
Myopathy, Myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related approved 613869
Myopathy, spheroid body, (due to mutations in the same gene as myopathy, myofibrillar 3 and with similar phenotype) approved 182920
Myotonia Congenita, Autosomal Dominant approved 160800
Myotonia Congenita, Autosomal Recessive approved 255700
Myotonic Dystrophy approved 160900
Myotonic Dystrophy type 2 approved 602668
Myotubular myopathy approved 310400, 300219
Nail-Patella Syndrome (NPS) approved 161200
Nance-Horan Syndrome (NHS) approved 302350
Naxos Disease (NXD) approved 601214
Nemaline Myopathy ACTA 1 approved 161800
Nemaline myopathy type 2 (NEM2) approved 256030
Nemaline Myopathy type 8 approved 615348