Skip to main content

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
Pituitary Hormone Deficiency, Combined, 6 (CPHD6) approved 600037
Platelet Disorder, Familial, with Associated Myeloid Malignancy (FPDMM) approved 601399
Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome approved 601200
Polycystic kidney disease (PKD4) approved 263200
Polycystic Kidney Disease 1 with or without Polycystic Liver Disease (PKD1) approved 173900
Polycystic Kidney Disease- type 2 (PKD2) approved 613095
Polycystic Kidney Disease-type 3 (PKD3) approved 600666
Polycystic Kidney Disease-type 5 (PKD5) approved 617610
Polycystic Kidney Disease-type 6 (PKD6) approved 618061
Polymicrogyria in association with homozygous/compound heterozygous ATP1A2 variants (autosomal recessive) approved *182340
Pontocerebellar Hypoplasia type 1a, type 2a, type 2b, type 2c, type 2d , type 3, type 4, type 6 approved 607596, 277470, 612389, 612390, 613811, 608027, 225753, 611523
Pontocerebellar Hypoplasia type 1B (PCH1B) approved 614678
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal approved 618810
Popliteal Pterigum Syndrome (PPS) approved 119500
Porencephaly 1 approved 175780
Prader Willi Syndrome (PWS) approved 176270
Primary Ciliary Dyskinesia Type 1 (CILD1 approved 244400
Primary Ciliary Dyskinesia Type 10 (CILD10) approved 612518
Primary Ciliary Dyskinesia Type 11 (CILD11) approved 612649
Primary Ciliary Dyskinesia Type 12 (CILD12) approved 612650