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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
Beare Stevenson syndrome approved 123790
Beaulieu-Boycott-Innes Syndrome (BBIS) approved 613680
Beckwith-Wiedemann Syndrome caused by a mutation in the CDKN1C gene or inheritance of a chromosome translocation, deletion or duplication affecting the chromosome 11 Beckwith Wiedemann syndrome region approved
Benign Chronic Pemphigus (BCPM) approved 169600
Beta Thalassaemia* approved 141900
Bethlem Myopathy 1 (BTHLM1) approved 158810
Bilateral Frontoparietal Polymicrogyria (BFPP) approved 606854
Birt-Hogg-Dubé Syndrome approved 135150
Blepharophimosis, Ptosis & Epicanthus Inversus Syndrome Types 1 & 2 (BPES 1 & 2) approved 110100
Bloom Syndrome approved 210900
Borjeson-Forssman-Lehmann Syndrome; BFLS approved 301900
Branchio-oculo-facial Syndrome (BOFS) approved 113620
Branchio-Oto-Renal Syndrome 1 (BOR1) approved 113650
BRCA 1 (increased susceptibility to breast cancer) approved 113705
Breast Ovarian Cancer Familial Susceptibility (BRCA2) approved 612555, 600185
Brooke-Spiegler Syndrome (BSS) approved 605041
Brugada Syndrome 1 (Sudden Unexplained Nocturnal Death Syndrome (SUNDS)) approved 601144
Calpainopathy approved 253600
Campomelic Dysplasia approved 114290
Canavan Disease approved 271900