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PGD conditions

This table shows all PGD 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 pgd@hfea.gov.uk.

Condition name Status OMIM number Documents
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
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