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PGD conditions

This table shows all PGD 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

Condition name Status OMIM number Documents
Loeys-Dietz syndrome Type 3 approved 613795
3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCHD) approved 250620
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
Acute Intermittent Porphyria (AIP) approved 176000
Acute Recurrent Autosomal Recessive Rhabdomyolysis approved 268200
Adenylosuccinate lyase deficiency (ADSLD) approved 103050
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
Aicardi Goutieres syndrome Types 2, 3, 4, 5 and 6 approved 610181, 610329, 610333, 612952, 615010
Aicardi-Goutieres Syndrome 1 (AGS1) approved 225750