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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
Loeys-Dietz syndrome Type 3 approved 613795
Porphyria, Acute Intermittent (AIP) approved 176000
3-Hydroxyisobutyryl-CoA Hydrolase Deficiency (HIBCHD) approved 250620
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency; MCC1D approved 210200
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency; MCC2D approved 210210
46XY Sex Reversal 6 (SRXY6) approved 613762
Aarskog-Scott Syndrome (AAS) approved 305400
Abetalipoproteinemia (ABL) approved 200100
Achondrogenesis Type IA (ACG1A) approved 200600
Achondrogenesis Type IB (ACG1B) approved 600972
Achondrogenesis Type II (ACG2) approved 200610
Achondroplasia (ACH) approved 100800
Achromatopsia 2 (ACHM2) approved 216900
Achromatopsia 3 (ACHM3) approved 262300
Achromatopsia 4 (ACHM4) approved 613856
Achromatopsia 5 (ACHM5) approved 613093
Achromatopsia 6 (ACHM6) (autosomal recessive only) approved 610024
Achromatopsia 7 (ACHM7) approved 616517
Acute Recurrent Autosomal Recessive Rhabdomyolysis approved 268200
Adams-Oliver Syndrome 1 (AOS1) approved 100300