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 pgd@hfea.gov.uk.
| Condition name | Status | OMIM number |
|---|---|---|
| Loeys-Dietz syndrome type 3 | approved | 613795 |
| 3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCHD) | approved | 250620 |
| 46XY Sex Reversal 6 (SRXY6) | approved | 613762 |
| 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 |
| 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 |
| Alagille Syndrome | approved | 118450 |
| Alpha Thalassaemia/mental retardation Syndrome* (ATRX) | approved | 301040 |