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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
Hyper IgM Syndrome - Hypogammaglobulinaemia* approved 308230
Hyperglycinemia, Lactic Acidosis, and Seizures (HGCLAS) approved 614462
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant approved 147060
Hyperoxaluria, Primary, Type I (HP1) approved 259900
Hyperoxaluria, Primary, Type II (HP2) approved 260000
Hyperparathyroidism 1 (HRPT1) approved 145000
Hyperparathyroidism 2 with Jaw Tumors (HRPT2) approved 145001
Hyperparathyroidism 4 (HRPT4) approved 617343
Hyperparathyroidism, Neonatal Severe (NSHPT) approved 239200
Hyperparathyroidism, Transient Neonatal (HRPTTN) approved 618188
Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) approved 261640
Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) approved 233910
Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) approved 261630
Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 (HPMRS1) approved 239300
Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 (HPMRS4) approved 615716
Hyperphosphatasia with intellectual disability syndrome 2 approved 614749
Hyperphosphatasia with intellectual disability syndrome 3 approved 614207
Hyperphosphatasia with intellectual disability syndrome 5 approved 616025
Hyperphosphatasia with intellectual disability syndrome 6 approved 616809
Hyperphosphatasia with intellectual disability syndrome 7 approved 280000