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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
Arrhythmogenic Right Ventricular Cardiomyopathy 15 (ARVC15) approved 617047
Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant approved
Arrhythmogenic Right Ventricular Dysplasia, Familial, 15 (ARVD15) approved 617047
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
Arts Syndrome; ARTS approved 301835
Ataxia Telangiectasia approved 208900
Ataxia-Pancytopenia syndrome; ATXPC approved 159550
Atrial Septal Defect (ASD) 7 with or without motor conduction defects approved 108900
Atypical Haemolytic Uraemic Syndrome (aHUS) type 1 approved 235400
Atypical Haemolytic Uraemic Syndrome (aHUS) type 2 approved 612922
Atypical Haemolytic Uraemic Syndrome (aHUS) type 3 approved 612923