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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 |
|---|---|---|---|
| Basal Cell Nevus Syndrome (BCNS) | approved | 109400 | |
| 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 | |
| Bethlem Myopathy 1 (BTHLM1) | approved | 158810 | |
| Bilateral Frontoparietal Polymicrogyria (BFPP) | approved | 606854 | |
| Birt-Hogg-Dube Syndrome (BHD) | approved | 135150 | |
| Blepharophimosis, Ptosis & Epicanthus Inversus Syndrome Types 1 & 2 (BPES 1 & 2) | approved | 110100 | |
| Bloom Syndrome (BLM) | approved | 210900 | |
| Borjeson-Forssman-Lehmann Syndrome (BFLS) | approved | 301900 | |
| Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes (BCYM4) | awaiting consideration | 612847 | |
| Brain Small Vessel Disease 1 with or without Ocular Anomalies (BSVD1) | approved | 175780 | |
| Brain Small Vessel Disease 2 (BSVD2) | approved | 614483 | |
| 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 | |
