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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
Adams-Oliver Syndrome 1 (AOS1) approved 100300
Adams-Oliver Syndrome 2 (AOS2) approved 614219
Adams-Oliver Syndrome 3 (AOS3) approved 614814
Adams-Oliver Syndrome 4 (AOS4) approved 615297
Adams-Oliver Syndrome 5 (AOS5) approved 616028
Adams-Oliver Syndrome 6 (AOS6) approved 616589
Adenylosuccinate lyase deficiency (ADSLD) approved 103050
Adrenal Hyperplasia, Congenital, due to Steroid 11-Beta-Hydroxylase Deficiency approved 202010
Adrenal Insufficiency Congenital, with 46, XY sex reversal, partial or complete approved 613743
Adrenoleukodystrophy (Adrenomyeloneuropathy) (ALD) approved 300100
Adult Syndrome approved 103285
Adult-onset vitelliform macular dystrophy approved 153700
Agammaglobulinaemia (x-linked) approved 300755
Agammaglobulinemia and isolated hormone deficiency approved 307200
Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN) awaiting consideration 218000
Aicardi Goutieres syndrome Types 2, 3, 4, 5 and 6 approved 610181, 610329, 610333, 612952, 615010
Aicardi-Goutieres Syndrome 1 (AGS1) approved 225750
Aicardi-Goutieres Syndrome 8 (AGS8) awaiting consideration 619486
Alagille Syndrome approved 118450
Alexander Disease (ALX) approved 203450