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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
Androgen Insensitivity Syndrome approved 300068
Angelman Syndrome (UBE3A gene only) approved 105830
Aniridia approved 106210
Antithrombin III Deficiency (AT3D) approved 613118
Apert syndrome, OMIM approved 101200
Aplastic anaemia - severe* approved
Argininosuccinic Aciduria approved 207900
Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant approved
Arterial Tortuosity Syndrome approved 208050
Arthrogryposis Distal 2A (DA2A) Freeman-Sheldon syndrome approved 193700
Arthrogryposis Distal type 1A (DA1A) approved 108120
Arthrogryposis Distal type 3 (DA3) Gordon syndrome approved 114300
Arthrogryposis Distal type 5 (DA5) approved 108145
Arthrogryposis Distal type 5D (DA5D) approved 615065
Arthrogryposis Distal type 7 (DA7) approved 158300
Arthrogryposis Distal type 8 (DA8) approved 178110
Arthrogryposis multiplex congenita, distal, type 2B approved 601680
Arthrogryposis renal dysfunction and cholestasis Types 1 and 2 approved 208085, 613404
AR-TTC5 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism awaiting approval 619014
Ataxia Telangiectasia approved 208900