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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 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
Neurodegeneration with Brain Iron Accumulation 5 (NBIA5) approved 300894
Neurodegeneration with Brain Iron Accumulation 6 (NBIA6) approved 615643
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism (NEDCAFD) approved 619244
Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation (NEDHRIT) approved 618797
Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) approved 618425
Neurodevelopmental Disorder with Involuntary Movements (NEDIM) awaiting consideration 617493
Neurodevelopmental Disorder with Progressive Microcephaly Spasticity and Brain Anomalies (NDMSBA) approved 617527
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities (NEDSWMA) approved 619026