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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.

Condition name Status OMIM number Documents
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
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
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
Spinal and Bulbar Muscular Atrophy X-linked (Kennedy disease) (in affected male embryos) approved 313200
Spinal Muscular Atrophy 1 (SMA1) approved 253300
Spinal Muscular Atrophy and Respiratory Distress (SMARD1) approved 604320