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The HFEA has launched its new data dashboard with data going back over 30 years. Access it here.

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
Robinow Syndrome Autosomal Dominant-Type 1 (DRS1) approved 180700
Robinow Syndrome Autosomal Dominant-Type 2 (DRS2) approved 616331
Robinow Syndrome Autosomal Dominant-Type 3 (DRS3) approved 616894
Robinow Syndrome Autosomal Recessive-Type 1 (RRS1) approved 268310
Robinow Syndrome Autosomal Recessive-Type 2 (RRS2) approved 618529
Rothmund-Thomson Syndrome (RTS) approved 268400
Saethre-Chotzen Syndrome (SCS) approved 101400
Salih myopathy approved 611705
Salla Disease approved 604369
Sandhoff Disease approved 268800
Sanjad Sakati Syndrome (SLSN6) approved 241410
Scapuloperoneal spinal muscular atrophy (SPSMA) approved 181405
Schaaf-Yang Syndrome approved 615547
Schimke Immunoosseous Dysplasia (SIOD) approved 242900
Schwannomatosis type 1 approved 162091
Schwannomatosis type 2 approved 615670
Seckel Syndrome 1 (SCKL1) approved 210600
Seckel Syndrome 2 (SCKL2) approved 606744
Seizures, Cortical Blindness, Microcephaly Syndrome (SCBMS) approved 616632
Sengers Syndrome approved 212350