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PGT-M conditions

This table shows all PGT-M conditions currently approved and awaiting consideration by the HFEA.

Please note that we are updating this database, and some approved conditions may not be displayed. If you are unsure if a condition has been approved or not, please contact pgtm@hfea.gov.uk.

Download full approved condition list.

Condition name Status OMIM number Documents
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-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
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 awaiting approval 312870
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 awaiting approval 136900