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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
Sialidosis, Type II approved 256550
Sickle Cell Anaemia* approved 603903
Simpson Golabi Behmel Syndrome Type 1 approved 312870 (to detect affected males)
Simpson-Golabi-Behmel Syndrome Type 2 approved 300209
Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1 approved 312870
Sjogren Larsson Syndrome (SLS) approved 270200
Small-fibre neuropathy (SFN) approved 133020
Smith Lemli Opitz Syndrome (SLOS) approved 270400
SOPH Syndrome (Short Stature, Optic Nerve Atrophy, Pelger-Huet anomaly) approved 614800
Sorsby Fundus Dystrophy; SFD approved 136900
Sotos syndrome 1 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
Spastic Ataxia, Charlevoix-Saguenay (SACS) approved 270550
Spastic paraplegia approved
Spastic Paraplegia and Psychomotor Retardation with or without Seizures; SPPRS approved 616756
Spinal and Bulbar Muscular Atrophy X-linked (Kennedy disease) (in affected male embryos) approved 313200