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 | Documents |
|---|---|---|---|
| Bullous Ichtyosiform Erythroderma (Epidermolytic Ichthyosis) | awaiting approval | 113800 | |
| EDEM3- related glycosylation disorder | awaiting approval | n/a | |
| Loeys-Dietz syndrome Type 3 | approved | 613795 | |
| X-Linked Emery Dreifuss Syndrome | awaiting approval | 300696 | |
| 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 | |
| Achromatopsia type 2 | awaiting approval | 216900 | |
| 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 | |