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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 (ATORS) approved 208050
Arthrogryposis, Distal, Type 1A (DA1A) approved 108120
Arthrogryposis, Distal, Type 2A (DA2A) approved 193700
Arthrogryposis, Distal, Type 2B1 (DA2B1) approved 601680
Arthrogryposis, Distal, Type 3 (DA3) approved 114300
Arthrogryposis, Distal, Type 5 (DA5) approved 108145
Arthrogryposis, Distal, Type 5D (DA5D) approved 615065
Arthrogryposis, Distal, Type 7 (DA7) approved 158300
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 (ARCS1) approved 208085
Arthrogryposis, Renal Dysfunction, and Cholestasis 2 (ARCS2) approved 613404
Arts Syndrome; ARTS approved 301835
Ataxia Telangiectasia (AT) approved 208900
Ataxia-Pancytopenia syndrome; ATXPC approved 159550
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects (ASD7) approved 108900
Auditory Neuropathy and Optic Atrophy (ANOA) approved 617717
Auditory Neuropathy, Autosomal Recessive, 1 (AUNB1) approved 601071
Autosomal dominant Dyskeratosis Congenita 1 (DKCA1) due to TERC mutation approved 127550