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PGT-M conditions

This table shows all PGT-M conditions currently approved and awaiting consideration by the HFEA.

Please note that we are updating this database, and some approved conditions may not be displayed. If you are unsure if a condition has been approved or not, please contact pgtm@hfea.gov.uk.

Download full approved condition list.

Condition name Status OMIM number Documents
Loeys-Dietz syndrome Type 3 approved 613795
3-Hydroxyisobutryl-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 approved 305400
Abetalipoproteinemia (also known as aconthocytosis, microsomal triglyceride transfer protein deficiency and Bassen-Kornweig syndrome) approved 200100
Achondrogenesis Type 1a approved 200600
Achondrogenesis Type 1b approved 600972
Achondrogenesis Type 2 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 Intermittent Porphyria (AIP) approved 176000
Acute Recurrent Autosomal Recessive Rhabdomyolysis approved 268200
Adams-Oliver Syndrome 1 (AOS1) approved 100300