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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
Senior-Loken Syndrome type 5 (SLSN5) approved 609254
Senior-Loken Syndrome type 6 (SLSN6) approved 610189
Senior-Loken Syndrome type 7 (SLSN7) approved 613615
Senior-Loken Syndrome type 8 (SLSN8) approved 616307
Senior-Loken Syndrome type 9 (SLSN9) approved 616629
Severe / Profound Global Developmental Delay and Epilepsy (GRM7 gene) approved 604101
Severe Combined Immune Deficiency (x-linked) (SCIDX1) approved 300400
Severe Combined Immunodeficiency – autosomal recessive approved 600802
Severe Combined Immunodeficiency (SCID) approved 601457
Severe Combined Immunodeficiency (SCID) (Adenosine Deaminase (ADA) deficient) approved 102700
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 (SDS) approved 260400
Sialic Acid Storage Disorder (ISSD) approved 269920
Sialidosis, Type I approved 256550
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