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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 |
|---|---|---|---|
| Severe Combined Immunodeficiency (SCID) (Adenosine Deaminase (ADA) deficient) | approved | 102700 | |
| Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis (SSASKS) | awaiting consideration | 618363 | |
| Short Stature, Microcephaly, and Endocrine Dysfunction (SSMED) | approved | 616541 | |
| Short-Rib Thoracic Dysplasia, types 2 - 11, 13 and 14 | approved | 611263, 613091, 613819, 614376, 263520, 614091, 615503, 266920, 615630, 615633, 616300, and 616546 | |
| Shwachman-Diamond Syndrome 1 (SDS1) | approved | 260400 | |
| Sialidosis, Type I | approved | 256550 | |
| Sialidosis, Type II (for minutes please search for condition Sialidosis, Type I) | approved | 256550 | |
| Sickle Cell Anaemia* | approved | 603903 | |
| Simpson-Golabi-Behmel Syndrome, Type 1 (SGBS1) | approved | 312870 | |
| Simpson-Golabi-Behmel Syndrome, Type 2 (SGBS2) | approved | 300209 | |
| Sjogren Larsson Syndrome (SLS) | approved | 270200 | |
| Smith Lemli Opitz Syndrome (SLOS) | approved | 270400 | |
| Smith-McCort Dysplasia 1 (SMC1) | approved | 607326 | |
| Smith-McCort Dysplasia 2 (SMC2) | approved | 615222 | |
| SOPH Syndrome (Short Stature, Optic Nerve Atrophy, Pelger-Huet anomaly) | approved | 614800 | |
| Sorsby Fundus Dystrophy; SFD | approved | 136900 | |
| Sotos Syndrome (SOTOS) | approved | 117550 | |
| Spastic Ataxia 1, Autosomal Dominant (SPAX1) | approved | 108600 | |
| Spastic Ataxia 2, Autosomal Recessive (SPAX2) | approved | 611302 | |
| Spastic Ataxia 3, Autosomal Recessive (SPAX3) | approved | 611390 | |
