Skip to main content
The HFEA has launched its new Media Centre where you can find the latest news and information from us. 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

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
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 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
Hyperphosphatasia with Mental Retardation Syndrome 4 (HPMRS4) approved 615716
Hypertrophic Neuropathy of Dejerine-Sottas (HNDS) approved 145900
Hypocalcemia, autosomal dominant 1 (HYPOC1) approved 601198
Hypocalcemia, autosomal dominant 2 (HYPOC2) approved 615361
Hypochondroplasia approved 146000
Hypophosphatasia (Infantile/perinatal lethal) approved 241500
Hypophosphatasia, Adult (HPPA) approved 146300
Hypophosphatasia, Childhood (HPPC) approved 241510
Hypophosphatemic Rickets (x-linked dominant) (XLHR) approved 307800