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 | OMIM1 number |
|---|---|
| 5 Alpha Reductase Deficiency (5ARD) insofar as that condition affects males, with simultaneous sex determination | 264600 |
| Acute Intermittent Porphyria | 176000 |
| Acute Recurrent Autosomal Recessive Rhabdomyolysis (ARARRM) | 268200 |
| Adrenoleukodystrophy (Adrenomyeloneuropathy) | 300100 |
| Agammaglobulinaemia | 300755 |
| Aicardi Goutieres Syndrome 1 (AGS1) | 225750 |
| Alagille Syndrome | 118450 |
| Alpers Syndrome | 203700 |
| Alpha thalassaemia/mental retardation syndrome* | 301040 |
| Alpha Thalassemia | 141800 |
| Alpha-1-antitrypsin deficiency | +107400 (where two Z alleles are inherited) |
| Alpha-mannosidosis | 248500 |
| Alports Syndrome | 301050 |
| Alzheimers Disease - early onset | 104300 |
| Amyotrophic Lateral Sclerosis 1 (ALS1) | 105400 |
| Anderson Fabry Disease | 301500 |
| Androgen Insensitivity Syndrome | 300068 |
| Angelman Syndrome (UBE3A gene only) | 105830 |
| Aplastic anaemia - severe* | - |
| Argininosuccinic Aciduria | 207900 |
| Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant | - |
| Ataxia Telangiectasia | 208900 |
| Autosomal Dominant Polycystic Kidney Disease (ADPKD) | 173900 |
| Autosomal Dominant Retinitis Pigmentosa | 604485 |
| Autosomal Dominant Retinitis Pigmentosa | 180100 |
| Autosomal Recessive Dopa Responsive Dystonia | 233910 |
| Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness | 267500 |
| Bardet-Biedl syndrome (BBS) | 209900 |
| Barth Syndrome | 302060 |
| Battens Disease (infantile) | 204200 |
| Beta Hydroxyisobutyryl CoA Hydrolase Deficiency (Methacrylic Aciduria) | 250620 |
| Beta Thalassaemia* | 141900 |
| Bethlem Myopathy | 158810 |
| Bilateral Frontoparietal Polymicrogyria | 606854 |
| Birt-Hogg-Dubé Syndrome | 135150 |
| Branchio-Oto-Renal Syndrome (BOR) | 113650 |
| BRCA 1 (increased susceptibility to breast cancer) | 113705 |
| Breast Ovarian Cancer Familial Susceptibility (BRCA2) | 612555/600185 |
| Bruton Agammaglobulinemia Tyrosine Kinase (BTK) | 300300 |
| Calpainopathy | 253600 |
| Canavan Disease | 271900 |
| Cardiac Valvular Dysplasia | 314400 |
| Carney Complex | 160980 and 605224 |
| Carnitine Acylcarnitine Translocase Deficiency (CACT) | 212138 |
| Catecholaminergic Polymorphic Ventricular Tachychardia 2 (CPVT2) | 611938 |
| Central Core Disease of Muscle | 117000 |
| Cerebral Autosomal Dominant Arteriopathy with Sub cortical infarcts and Leukoencephalopathy (CADASIL) | 125310 |
| Cerebral Cavernous Malformations (CCM) | 116860 |
| Charcot Marie Tooth Disease | 302800 |
| Charcot Marie Tooth Disease Type 2 | 609260 |
| Charcot Marie Tooth Disease, demyelinating, type 1A (CMT1A) | 118220 |
| Chondrodysplasia Punctata | 302950 |
| Choroideraemia | 303100 |
| Chromosomal rearrangements (various) | - |
| Chronic Granulomatous Disease | 306400 |
| Citrullinaemia type 1 | 215700 |
| Classical Ehlers Danlos Syndrome | 130000/130010 |
| Coffin-Lowry Syndrome | 303600 |
| Congenital Adrenal Hyperplasia (21 hydroxylase deficiency) | 201910 |
| Congenital Fibrosis of the Extraocular Muscles | 135700 |
| Congenital Stationary Night Blindness | 310500 |
| Conradi-Hunermann-Happle Syndrome | 302960 |
| Cowden syndrome (CS)/PTEN hamartoma tumour syndrome (PHTS) | 601728 |
| Crouzon Syndrome | 123500 |
| Cystic Fibrosis | 219700 |
| Cystinosis | 219800 |
| Czech dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toes | 609162 |
| Dentatorubral-Pallidoluysian Atrophy (DRPLA) | 125370 |
| Diamond Blackfan Anaemia* | 105650 |
| Dominant Dystrophic Epidermolysis Bullosa | 131750 |
| Donohue Syndrome | 246200 |
| Downs syndrome | 190685 |
| Dravet Syndrome | 607208 |
| Dyskeratosis congenita (Male embryos only) | 305000 |
| Dystonia 1 Torsion Autosomal Dominant (DYT1) | 128100 |
| Early-onset Alzheimer disease Type 3 & 4 | 607822/ 606889 |
| Ectodermal dysplasia (Hypohidrotic) | 305100 |
| Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC) | 129900 |
| Ehlers-Danlos Type IV | 130050 |
| Elastin (ELN)-related Supravalvular Aortic Stenosis | 185500 |
| Ellis-Van Crevald Syndrome | 225500 |
| Epilepsy, female restricted, with mental retardation (EFMR) | 300088 |
| Facioscapulohumeral Dystrophy | 158900 |
| Factor XIII deficiency | 613225 |
| Familial Adenomatous polyposis coli (FAP) | 175100 |
| Familial Dysautonomia | 223900 |
| Familial Hemophagocytic Lymphohistiocytosis (FHL) | 603553 |
| Familial Hypertrophic Cardiomyopathy 4 (CMH4) | 115197 |
| Familial Paranganglioma Syndrome (PGL1) | 168000 |
| Fanconis Anaemia A* | 607139 |
| Fanconis Anaemia C* | 227645 |
| Fragile X Syndrome | 309550 |
| Fraser Syndrome | 219000 |
| Fried Syndrome | 300630 |
| Frontotemporal Dementia | 600274 |
| Galactosialidosis (early infantile and adult/ juvenile types) | 256540 |
| Gangliosidosis (GM1) | 230500 |
| Gaucher Disease Type III | 231000 |
| Gaucher's Disease (Type II) | 230900 |
| Glutaric Acidemia (aciduria) | 231670 |
| Glycogen Storage Disease Type 1A | 232200 |
| Gonadal mosaicism | - |
| Gorlin Syndrome | 109400 |
| Greig's Cephalopolysyndactyly | 175700 |
| Haemophilia A | 306700 |
| Haemophilia B | 306900 |
| Harlequin Ichthyosis | 242500 |
| Hereditary diffuse gastric cancer | 137215 |
| Hereditary Haemorrhagic Telangiectasia or Rendu-Osler-Weber Syndrome | 187300 |
| Hereditary motor and sensory neuropathies | 302800 |
| Hereditary Multiple Exostoses Type II | 133701 |
| Hereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (for all subtypes) | - |
| Holt Oram Syndrome | 142900 |
| Homozygous familial hypercholesterolaemia | 143890 |
| Hunters Syndrome | 309900 |
| Huntingtons Disease (Huntingtons Chorea) | 143100 |
| Hydrocephalus | 307000 |
| Hydroxyisobuyryl CoA Hydrolase Deficiency | 250620 |
| Hyper IgM Syndrome - Hypogammaglobulinaemia* | 300386 |
| Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant | 147060 |
| Hypochondroplasia | 146000 |
| Hypophosphatasia (Infantile/ Perinatal lethal) | 241500 |
| Hypophosphatemic Rickets: X-linked dominant (Xlh) | 307800 |
| Hypospadias (severe) | - |
| Ichthyosis | 308100 |
| Idiopathic Arterial Calcification of Infancy | 208000 |
| Incontinentia Pigmenti | 308300 |
| Juvenile Retinoschisis | 312700 |
| Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS) | 530000/ 557000 |
| Krabbe Disease | 245200 |
| L–2-Hydroxyglutaric aciduria | 236792 |
| Leber Congenital Amaurosis | 204000/ 204100 |
| Leber's hereditary optic neuropathy / Lebers Optic atrophy | 535000 |
| Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy) | 185620 |
| Leigh's (subacute necrotising encephalopathy of childhood) | 516000; 516002; 516005; 516006 |
| Lenz syndrome | 309800 |
| Lesch Nyan Syndrome | 300322 |
| Lethal Multiple Pterygium Syndrome (LMPS) | 253290 |
| Leukocyte Adhesion Deficiency (Type I)* | 116920 |
| Li-Fraumeni Syndrome | 151623 |
| Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) | 609016 |
| Long QT Syndrome Types 1, 2, 3, 5 & 6 | 613688 |
| Lowe Oculocerebrorenal Syndrome | 309000 |
| Lymphoproliferative Syndrome | 308240 |
| Lynch syndrome / HNPCC (MLH1 gene) | 609310 |
| Lynch syndrome / HNPCC (MSH2 gene) | 120435 |
| Macular Dystrophy (childhood onset - variant of Retinitis pigmentosa) | 312600 |
| Macular Dystrophy Retinal 2 | 608051 |
| Malignant Infantile Osteopetrosis | 259700 |
| Maple Syrup Urine Disorder (MSUD) | 248600 |
| Marfan Syndrome | 154700 |
| Medium-chain acyl-Co A dehydrogenase | 231680 |
| MELAS (Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) | 590050 |
| Menkes Syndrome | 309400 |
| Metachromatic Leukodystrophy | 250100 |
| Methylmalonic Aciduria and Homocystinuria | 277400 |
| Micro Syndrome (WARBM) | 600118 |
| Mucolipidosis type II | 252500 |
| Mucopolysaccharidosis III (MPS-III) Type B | 252920 |
| Mucopolysaccharidosis III (MPS-III) Type C | 252940 |
| Mucopolysaccharidosis III (MPS-III) Type D | 252930 |
| Mucopolysaccharidosis Type I (MPS I) | 607014, 607015, 607016 |
| Mucopolysaccharidosis type VI | 253200 |
| Multiple Endocrine Neoplasia (Type I) | 131100 |
| Multiple Endocrine Neoplasia Type 2A (MEN type 2A) | 171400 |
| Multiple Endocrine Neoplasia type 2B (MEN 2B) | 162300 |
| Multiple Epiphyseal Dysplasia Type 5 (MED5) | 607078 |
| Multiple Exostoses | 133700 |
| Multiple Lentigines Syndrome (LEOPARD Syndrome) | 151100 |
| Multiple Pterygium Syndrome Lethal Form(LMPS) | 253290 |
| Muscle-Eye-Brain Disease | 253280 |
| Muscular Dystrophy (Beckers) | 300376 |
| Muscular Dystrophy (Duchenne) | 310200 |
| Muscular dystrophy (Occulopharangeal) | - |
| Muscular dystrophy, Limb-Girdle (LGMD) Type 1B | 159001 |
| Muscular Dystrophy-dystroglycanopathy Type A5 | 613153 |
| Myoclonic epilepsy and ragged red fibres (MERFF) | - |
| Myotonic Dystrophy | 160900 |
| Myotublar myopathy | 310400/300219 |
| Nephrogenic Diabetes Insipidus (NDI) | 304800 |
| Neurofibromatosis type I | 162200 |
| Neurofibromatosis type II | 101000 |
| Neurogenic muscle weakness, ataxia, retinitis pigmentosa (NARP) | 516060 |
| Niemann Pick Disease Type A | 257200 |
| Niemann Pick Disease Type C | 257220 |
| Non-Ketotic Hyperglycinaemia (NKH)/ Glycine Encephalopathy (GCE) | 605899 |
| Noonan Syndrome | 163950 |
| Norrie Disease | 310600 |
| Oculocutaneous Albinism Type 1A | 203100 |
| Oculocutaneous Albinism Type 1B | 606952 |
| Omenn Syndrome | 603554 |
| Ornithine carbamoyl transferase Deficiency (OTC) | 300461 |
| Ornithine transcarbamylase deficiency (OTD) | 311250 |
| Osteogenesis Imperfecta (Type II) | 120160 |
| Osteogenesis Imperfecta (Type III) | 259420 |
| Osteogenesis Imperfecta type 1A | 166240 |
| Osteogenesis Imperfecta Type1 (OI1) | 166200 |
| Osteopetrosis with Renal Tubular Acidosis (OPTB3) | 259730 |
| Osteopetrosis, Autosomal Recessive 5 and Osteopetrosis, Infantile Malignant 3 | 259720 |
| Ostheopathia Striata with Cranial Sclerosis (OSCS) | 300373 |
| Otopalatodigital syndrome (Type 2) | 304120 |
| Pachyonychia Congenita Type 1 | 167200 |
| Paragangliomas 4 (plg 4) | 115310 |
| Partial Lipodystrophy, Familial (Type 2) | 151660 |
| Pelizaeus Merzbacher Disease | 312080/311601 |
| Peroxisome Biogenesis Disorders PBD (Zellweger Syndrome Spectrum ZSS) | - |
| Phenylketonuria (PKU) | 261600 |
| Plakophilin 1 (PKP1) associated ectodermal dysplasia syndrome | 601975 |
| Polycystic kidney disease | 263200 |
| Pompe Disease (early onset) | 232300 |
| Pontocerebellar Hypoplasia type 1a, type 2a, type 2b, type 2c, type 2d , type 3, type 4, type 6 | 607596/277470/612389/612390/613811/608027/225753/611523 |
| Pontocerebellar Hypoplasia type 1B (PCH1B) | 614678 |
| Popliteal Pterigum Syndrome | 119500 |
| Prader Willi Syndrome | 176270 |
| Progressive Familial Intraheptic Chloestasis Cholestasis Type 1 (PFIC1) | 211600 |
| Propionic Acidemia | 606054 |
| Pseudoachondroplasia | 177170 |
| Pseudohypoparathyroidism PHP1a | 103581 |
| Pyrodoxine-dependent seizures | 266100 |
| Pyruvate Dehydrogenase E1-beta Deficiency | 179060 |
| Recessive Dystrophic Epidermolysis Bullosa* (Halleau-Siemens & Herlitz junctional) | various |
| Recurrent Digynic Triploidy | - |
| Recurrent hydatitiform mole | 231090 |
| Renal Coloboma Syndrome | 120330 |
| Retinitis Pigmentosa | 300455 |
| Retinoblastoma | 180200 |
| Retinoschisis (Juvenile) | 312700 |
| Rett Syndrome RTT and Neonatal Encephalopathy | 312750/300673 |
| Rhesus disease/ Haemolytic Disease of the Newborn (HDN) | - |
| Sandhoff Disease | 268800 |
| Sanfilippo or Mucopolysaccharidosis Type III A | 252900 |
| Sanjad Sakati Syndrome | 241410 |
| Seathre-Chotzen | 101400 |
| Senior Loken Syndrome 6 | 610189 |
| Sensorineural deafness - autosomal recessive non-syndromic | 220290 |
| Severe Combined Immune Deficiency (x-linked) | 300400 |
| Severe Combined Immunodeficiency (SCID) | 601457 |
| Severe Combined Immunodeficiency – autosomal recessive | 600802 |
| Sickle Cell Anaemia* | 603903 |
| Simpson Golabi Behmel Syndrome Type 1 | 312870 (to detect affected males) |
| Smith Lemli Opitz Syndrome | 270400 |
| Spastic paraplegia | - |
| Spinal and Bulbar Muscular Atrophy X-linked (Kennedy disease) (in affected males embryos) | 313200 |
| Spinal Muscular Atrophy (SMA1) | 253300 |
| Spinal Muscular Atrophy and Respiratory Distress (SMARD1) | 604320 |
| Spinocerebellar Ataxia Type 1 (SCA1) | 164400 |
| Spinocerebellar Ataxia Type 2 (SCA2) | 183090 |
| Spinocerebellar Ataxia Type 3 (SCA 3) (Machado Joseph Disease) | 109150 |
| Spinocerebellar Ataxia Type 6 | 183086 |
| Spondyloepiphyseal Dysplasia Congenita | 183900 |
| Stickler Syndrome type 1, 2, 3 and autosomal recessive | 108300/609508, 604841, 184840, 120210 |
| Stuve-Wiedemann Syndrome | 601559 |
| Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) | 271980 |
| Surfactant Metabolism Dysfunction, Pulmonary 1 (SMDP1) | 265120 |
| Tay Sachs Disease (infantile onset) | 272800 |
| Torsion Dystonia | 128100 |
| Townes-Brocks Syndrome | 107480 |
| Treacher Collins Syndrome | 154500 |
| Tuberous Sclerosis (TSC2) | 191100 |
| Turner's syndrome (Mosaic) | - |
| Tyrosinaemia Type 1 | 276700 |
| Ullrich Muscular Dystrophy | 254090 |
| Von Hippel Lindau (VHL) Syndrome | 193300 |
| Walker Warburg Syndrome (Muscular dystrophy dystroglycanopathy) | 236670 |
| Wiscott-Aldrich Syndrome* | 301000 |
| Wolcott-Rallison Syndrome | 226980 |
| Wolman's Disease (Acid Lipase Deficiency) | 278000 |
| X Linked Retinitis Pigmentosa (RP3) | 300029 |
| X-Linked Emery-Dreifuss Muscular Dystrophy (EDMD) (Male embryos only) | 310100 |
| X-Linked Lymphoproliferative Disease Type 2 (XLP2) (Male Embryos Only) | 300365 |
| X-Linked Thrombocytopenia (XLT) | 313900 |
* 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.
1 Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), {date of download}. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim
Page last updated: 16 Oct 2013 1:45 PM
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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