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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
Nephronophthisis 14, (NPHP14) approved 614844
Nephronophthisis 15, (NPHP15) approved 614845
Nephronophthisis 16, (NPHP16) approved 615382
Nephronophthisis 18, (NPHP 18) approved 615862
Nephronophthisis 19, (NPHP 19) approved 616217
Nephronophthisis 2, (NPHP2) approved 602088
Nephronophthisis 20, (NPHP 20) approved 617271
Nephronophthisis 3, (NPHP3) approved 604387
Nephronophthisis 4, (NPHP4) approved 606966
Nephronophthisis 7, (NPHP7) approved 611498
Nephronophthisis-like nephropathy 1 approved 613159
Nephropathic Cystinosis (CTNS) approved 219800
Nephrotic syndrome Type 1 (NPHS1) approved 256300
Nephrotic syndrome Type 2 (NPHS2) approved 600995
Netherton Syndrome approved 256500
Neurodegeneration with Brain Iron Accumulation 1 (NBIA1) approved 234200
Neurodegeneration with Brain Iron Accumulation 2A (NBIA2A) approved 256600
Neurodegeneration with Brain Iron Accumulation 2B (NBIA2B) approved 610217
Neurodegeneration with Brain Iron Accumulation 3 (NBIA3) approved 606159
Neurodegeneration with Brain Iron Accumulation 4 (NBIA4) approved 614298