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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
X Linked Periventricular Heterotopia (PVNH1) approved 300049
X-linked Adrenal Hypoplasia Congenita (XL-AHC) approved 300200
X-linked Cardiac Valvular Dysplasia approved 314400
X-linked Chronic Granulomatous Disease (CGDX) approved 306400
X-linked Ectodermal dysplasia 1 (Hypohidrotic) approved 305100
X-linked heterotaxy 1 (HTX1) - ZIC3 associated congenital heart defects and heterotaxy approved 306955
X-linked Hydrocephalus (HSAS) approved 307000
X-linked lissencephaly approved 300067
X-Linked Lymphoproliferative Disease Type 2 (XLP2) (Male Embryos Only) approved 300365
X-linked Ocular Albinism approved 300500
X-linked Opitz GBBB syndrome Type 1 approved 300000
X-Linked Reducing Body Myopathy - severe infantile/early childhood onset approved 300717
X-linked Retinoschisis (RS1) approved 312700
X-Linked Thrombocytopenia (XLT) approved 313900
XMEN syndrome (X Linked magnesium defect, EBV, neoplasia) approved 300853