PGD conditions licensed by the HFEA
What is this list?
Pre-implantation genetic diagnosis (PGD) is a technique that enables people with a specific inherited condition in their family to avoid passing it on to their children. It involves checking the genes of embryos created through IVF for this genetic condition.
Before PGD clinics are permitted to test for a condition or combination of conditions, the HFEA must first agree that the condition they want to test for is sufficiently serious. This list of conditions are those that the HFEA has so far agreed that it is acceptable for clinics to use PGD to test for.
What is an OMIM number?
OMIM stands for ‘Online Mendelian Inheritance in Man.’ An OMIM number is a way of cataloguing human genes and genetic conditions.
The HFEA, when approving genetic conditions for PGD, asks clinics to provide the relevant OMIM number for that condition. This ensures that the HFEA, the clinic, and any prospective patients can be clear about the conditions which have been approved for PGD.
Can’t find the condition you are looking for?
If the condition you are looking for does not appear on this list, it may be because the condition is not yet approved or it was approved after this webpage was last updated. We update this page as soon as possible after a new condition is approved.
PGD is an area of medicine that is rapidly developing, and new tests often become available. If a condition does not appear on this list, we recommend getting in touch with a licensed PGD clinic.
| Conditions licensed | OMIM number |
|---|---|
| Adrenoleukodystrophy (Adrenomyeloneuropathy) | 300100 |
| Agammaglobulinaemia | 300755 |
| Alpers Syndrome | 203700 |
| α thalassaemia/mental retardation syndrome* | 301040 |
| Alport's Syndrome | 301050 |
| Alzheimers Disease - early onset | 104300 |
| Anderson Fabry Disease | 301500 |
| Androgen Insensitivity Syndrome | 300068 |
| Aplastic anaemia - severe* | - |
| Barth Syndrome | 302060 |
| Battens Disease (infantile) | 204200 |
| Beta Hydroxyisobuyryl CoA Hydrolase Deficiency (Methacryic Aciduria) | 250620 |
| Beta Thalassaemia* | 141900 |
| Bilateral Frontoparietal Polymicrogyria | 606854 |
| BRCA 1 (increased susceptibility to breast cancer) | 113705 |
| Bruton Agammaglobulinemia Tyrosine Kinase | 300300 |
| Cardiac Valvular Dysplasia | 314400 |
| Carney Complex | 160980 / 605224 |
| Charcot Marie Tooth Disease | 302800 |
| Chondrodysplasia Punctata | 302950 |
| Choroideraemia | 303100 |
| Chromosomal rearrangements (various) | - |
| Chronic Granulomatous Disease | 306400 |
| Coffin-Lowry Syndrome | 303600 |
| Congenital Adrenal Hyperplasia | 300200 |
| Congenital Fibrosis of the Extraocular Muscles | 135700 |
| Congenital Stationary Night Blindness | 310500 |
| Crouzon Syndrome | 123500 |
| Cystic Fibrosis | 219700 |
| Cystinosis | 219800 |
| Diamond Blackfan Anaemia* | 105650 |
| Down's syndrome | 190685 |
| Dystonia 1 Torsion Autosomal Dominant (DYT1) | 128100 |
| Ectodermal dysplasia (Hypohidrotic) | 305100 |
| Epidermolysis Bullosa (Hallopeau-Siemens & Herlitz junctional) | various |
| Facioscapulohumeral Dystrophy | 158900 |
| Familial Adenomatous polyposis coli | 600403 |
| Fanconi's Anaemia A* | 607139 |
| Fanconi's Anaemia C* | 227645 |
| Fragile X Syndrome | 309550 |
| Gaucher's Disease (Type II) | 230900 |
| Gonadal mosaicism | - |
| Greig's Cephalopolysyndactyly | 175700 |
| Haemophilia A | 306700 |
| Haemophilia B | 306900 |
| Harlequin ichthyosis | 242500 |
| Hereditary diffuse gastric cancer | 137215 |
| Hereditary motor and sensory neuropathies | 302800 |
| Homozygous Familial Hypercholesterolaemia | 143890 |
| Hunters Syndrome | 309900 |
| Huntington’s Disease | 143100 |
| Hydrocephalus | 307000 |
| Hydroxyisobuyryl CoA Hydrolase Deficiency | 250620 |
| Hyper IgM Syndrome - Hypogammaglobulinaemia* | 300386 |
| Hypophosphatasia (infantile/perinatal lethal) | 241500 |
| Hypospadias (severe) | Not recorded |
| Ichthyosis | 308100 |
| Incontinentia Pigmenti | 308300 |
| Juvenile Retinoschisis | 312700 |
| Krabbe Disease | 245200 |
| Leber's hereditary optic neuropathy / Lebers Optic atrophy | 535000 |
| Leigh's (subacute necrotising encephalopathy of childhood) | 516000 / 516002 |
| Lenz syndrome | 309800 |
| Lesch Nyhan Syndrome | 300322 |
| Leukocyte Adhesion Deficiency (Type I)* | 116920 |
| Li-Fraumeni Syndrome | 151623 |
| Lymphoproliferative Syndrome | 308240 |
| Lynch Syndrome (MLH 2) | 120435 |
| Lynch syndrome (MLH 1) | 609310 |
| Macular Dystrophy (childhood onset - variant of Retinitis pigmentosa) | 312600 |
| Marfan Syndrome | 154700 |
| Medium-chain acyl-Co A dehydrogenase | 231680 |
| MELAS (Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) | 590050 |
| Menkes Syndrome | 309400 |
| Myoclonic epilepsy and ragged red fibres (MERFF) | 545000 |
| Metachromatic Leukodystrophy | 250100 |
| Multiple Endocrine Neoplasia (Type I) | 131100 |
| Multiple Exostoses | 133700 |
| Muscular Dystrophy (Beckers) | 300376 |
| Muscular Dystrophy (Duchenne) | 310200 |
| Muscular dystrophy (Occulopharangeal) | 164300 |
| Myotonic Dystrophy | 160900 |
| Myotublar myopathy | 310400/300219 |
| Neurogenic muscle weakness, ataxia, retinitis pigmentosa (NARP) | 516060 |
| Neurofibromatosis type I | 162200 |
| Neurofibromatosis type II | 101000 |
| Niemann Pick Disease Type C | 257220 |
| Oculocutaneous Albinism Type 1A | 203100 |
| Oculocutaneous Albinism Type 1B | 606952 |
| Ornithine carbamoyl transferase Deficiency (OTC) | 300461 |
| Ornithine transcarbamylase deficiency (OTD) | 311250 |
| Osteogenesis Imperfecta (Type II) | 120160 |
| Ostheopathia Striata with Cranial Sclerosis | 300373 |
| Otopalatodigital syndrome (Type 2) | 304120 |
| Partial Lipodystrophy, Familial (Type 2) | 151660 |
| Pelizaeus Merzbacher Disease | 312080/311601 |
| Phenylketonuria (PKU) | 261600 |
| Plakophilin 1 (PKP1) associated ectodermal dysplasia syndrome | 601975 |
| Polycystic kidney disease | 263200 |
| Pompe Disease (early onset) | 232300 |
| Prader Willi Syndrome | 176270 |
| Pyrodoxine-dependent seizures | 266100 |
| Recurrent Digynic Triploidy | - |
| Recurrent hydatitiform mole | 231090 |
| Retinitis Pigmentosa | 300455 |
| Retinoblastoma | 180200 |
| Retinoschisis (Juvenile) | 312700 |
| Sandhoff Disease | 268800 |
| Sensorineural deafness - autosomal recessive non-syndromic | 220290 |
| Severe Combined Immune Deficiency (x-linked) | 300400 |
| Sickle Cell Anaemia* | 603903 |
| Smith lemli opitz syndrome | 270400 |
| Spastic paraplegia | - |
| Spinal Muscular Atrophy (SMA1) | 253300 |
| Tay Sachs Disease (infantile onset) | 272800 |
| Torsion Dystonia | 128100 |
| Treacher Collins Syndrome | 154500 |
| Tuberous Sclerosis (TSC2) | 191100 |
| Turner's syndrome (Mosaic) | - |
| Von Hippel Lindau Syndrome | 193300 |
| Wiscott-Aldrich Syndrome* | 301000 |
| Wolman's Disease (Acid Lipase Deficiency) | 278000 |
** These conditions have also been licensed for use in cases involving HLA tissue typing. HLA tissue typing tests are licensed on a case-by-case basis, for specific patients.
Conditions awaiting consideration
If a clinic wishes to use PGD to test for a new genetic condition, then it must apply to the HFEA for permission.
See the conditions that the HFEA is considering on whether to allow clinics to use PGD to test for.
Page last updated: 29 October 2009
If a clinic wishes to use Preimplantation genetic diagnosis (PGD) to test for a new genetic condition, then it must apply to the HFEA for permission. 
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