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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
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
Spastic Ataxia 5, Autosomal Recessive (SPAX5) approved 614487
Spastic Ataxia 8, Autosomal Recessive with Hypo-Myelinating Leukodystrophy (SPAX8) approved 617560