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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
Trichohepatoenteric Syndrome 2 (THES2) approved 614602
Trichorhinophalangeal syndrome type 1 approved 190350
Triosephosphate Isomerase Deficiency (TPID) approved 615512
Tuberous Sclerosis (TSC1 and TSC2) approved 191100, 613254
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 (ADTKD2) approved 174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 (ADTKD4) approved 613092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 (ADTKD5) approved 617056
Turner syndrome (Mosaic) approved
Tyrosinaemia Type 1 approved 276700
Tyrosine Hydroxylase Deficiency approved 605407
UBE2A - Intellectual Disability type Nascimento - X linked approved 300860
Ullrich Congenital Muscular Dystrophy 1 (UCMD1) approved 254090
Ulnar-Mammary Syndrome (UMS) approved 181450
UNC13A related neuromuscular disorder approved *609894
Usher syndrome type 1 (including subtypes 1B, 1C, 1D, 1F, 1G, 1J) approved 276900 276904 601067 602083 606943 614869
Usher syndrome type 2 (including subtypes 2A, 2C and 2D) approved 276901, 605472, 611383
Van der Woude syndrome Type 1 approved 119300
Van Esch-O'Driscoll Syndrome; VEODS approved 301030
Vasculopathy, Retinal, with Cerebral Leukodystrophy (RVCL) approved 192315
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or without Atrial Dysfunction and/or Dilated Cardiomyopathy (CPVT1) approved 604772