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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
Bardet-Biedl Syndrome 4; BBS4 approved 615982
Bardet-Biedl Syndrome 5; BBS5 approved 615983
Bardet-Biedl Syndrome 7; BBS7 approved 615984
Bardet-Biedl Syndrome 8; BBS8 approved 615985
Bardet-Biedl Syndrome 9; BBS9 approved 615986
Bare Lymphocyte Syndrome, Type II, complementation groups A-E approved 209920
Barth Syndrome (BTHS) approved 302060
Bartsocas-Papas Syndrome (BPS1) approved 263650
Bartter Syndrome, Type 1, Antenatal (BARTS1) approved 601678
Bartter Syndrome, Type 2, Antenatal (BARTS2) approved 241200
Bartter Syndrome, Type 3, (BARTS3) approved 607364
Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness (BARTS4A) approved 602522
Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness (BARTS4B) approved 613090
Bartter Syndrome, Type 5, Antenatal, Transient; BARTS5 approved 300971
Beare-Stevenson Cutis Gyrata Syndrome (BSTVS) 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
Bestrophinopathy, Autosomal Recessive (ARB) approved 611809
Beta Thalassaemia* approved 141900