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.

PGD conditionOMIM number
(PIGN gene) Multiple Congenital Anomalies Hypotonia – Seizures Syndrome 1614080
5 Alpha Reductase Deficiency (5ARD) insofar as that condition affects males, with simultaneous sex determination264600
Acute Intermittent Porphyria176000
Acute Recurrent Autosomal Recessive Rhabdomyolysis (ARARRM)268200
Adrenoleukodystrophy (Adrenomyeloneuropathy)300100
Agammaglobulinaemia 300755
Aicardi Goutieres Syndrome 1 (AGS1)225750
Alagille Syndrome118450
Alpers Syndrome203700
Alpha-1-antitrypsin deficiency+107400 (where two Z alleles are inherited)
Alpha-mannosidosis248500
Alpha thalassaemia/mental retardation syndrome*301040
Alpha Thalassemia141800
Alports Syndrome301050
Alports Syndrome (Autosomal Dominant) 104200
Alzheimers Disease - early onset104300
Amyotrophic Lateral Sclerosis 1 (ALS1)105400
Anderson Fabry Disease 301500
Androgen Insensitivity Syndrome 300068
Angelman Syndrome (UBE3A gene only)105830
Aplastic anaemia - severe* 
Argininosuccinic Aciduria207900
Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant 
Ataxia Telangiectasia208900
Autosomal Dominant Acute Necrotizing Encephalopathy 608033
Autosomal Dominant Polycystic Kidney Disease (ADPKD)173900
Autosomal Dominant Retinitis Pigmentosa604485
Autosomal Dominant Retinitis Pigmentosa180100
Autosomal Recessive Dopa Responsive Dystonia233910
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness267500
Bardet-Biedl syndrome (BBS) 209900
Barth Syndrome302060
Battens Disease (infantile)204200
Beta Hydroxyisobutyryl CoA Hydrolase Deficiency (Methacrylic Aciduria) 250620
Beta Thalassaemia* 141900
Bethlem Myopathy158810
Bilateral Frontoparietal Polymicrogyria606854
Birt-Hogg-Dubé Syndrome135150
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
Calpainopathy253600
Canavan Disease271900
Cardiac Valvular Dysplasia 314400
Carney Complex160980 and 605224
Carnitine Acylcarnitine Translocase Deficiency (CACT)212138
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1) 604772
Catecholaminergic Polymorphic Ventricular Tachychardia 2 (CPVT2)611938
Central Core Disease of Muscle117000
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 Punctata302950
Choroideraemia 303100
Chromosomal rearrangements (various) 
Chronic Granulomatous Disease 306400
Citrullinaemia type 1215700
Classical Ehlers Danlos Syndrome130000/130010
Coffin-Lowry Syndrome 303600
Cohen Syndrome216550
Congenital Adrenal Hyperplasia (21 hydroxylase deficiency)201910
Congenital Disorder of Glycosylation type 1a 212065
Congenital Fibrosis of the Extraocular Muscles 135700
Congenital Myasthenic Syndrome (COLQ gene 603033) (Type Ic)603034
Congenital Secretory Chloride Diarrhoea 214700
Congenital Stationary Night Blindness310500
Conradi-Hunermann-Happle Syndrome302960
Cowden syndrome (CS)/PTEN hamartoma tumour syndrome (PHTS)601728
Craniofrontal Dysplasia304110
Crouzon Syndrome 123500
Cystic Fibrosis 219700
Cystinosis219800
Czech dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toes609162
Dentatorubral-Pallidoluysian Atrophy (DRPLA)125370
Desbuquois Dysplasia (DBQD)251450
Diamond Blackfan Anaemia*105650
Diarrheoa 5 with tufting enteropathy congenital613217
Distal Hereditary Motor Neuropathy type IIB608634
Dominant Dystrophic Epidermolysis Bullosa131750
Donohue Syndrome246200
Downs syndrome190685
Dravet Syndrome 607208
Dyskeratosis congenita (Male embryos only)305000
Dystonia 1 Torsion Autosomal Dominant (DYT1)128100
Early-onset Alzheimer disease Type 3 & 4607822/ 606889
Ectodermal dysplasia (Hypohidrotic)305100
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC)129900
Ehlers-Danlos Type IV130050
Elastin (ELN)-related Supravalvular Aortic Stenosis185500
Ellis-Van Crevald Syndrome225500
Epilepsy, female restricted, with mental retardation (EFMR)300088
Facioscapulohumeral Dystrophy158900
Factor XIII deficiency613225
Familial Adenomatous polyposis coli (FAP) 175100
Familial Dysautonomia223900
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 Syndrome219000
FRAXE309548
Fried Syndrome300630
Frontotemporal Dementia600274
Galactosialidosis (early infantile and adult/ juvenile types)256540
Gangliosidosis (GM1)230500
Gaucher's Disease (Type II)230900
Gaucher Disease Type III231000
Glutaric Acidemia (aciduria)231670
Glycogen Storage Disease Type 1A232200
Gonadal mosaicism  
Gorlin Syndrome 109400
Greig's Cephalopolysyndactyly175700
Haemophilia A 306700
Haemophilia B 306900
Harlequin Ichthyosis242500
Hereditary diffuse gastric cancer137215
Hereditary Haemorrhagic Telangiectasia or Rendu-Osler-Weber Syndrome187300
Hereditary motor and sensory neuropathies 302800
Hereditary Multiple Exostoses Type II133701
Hereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (for all subtypes) 
Holt Oram Syndrome142900
Homocystinuria236200
Homozygous familial hypercholesterolaemia143890
Hunters Syndrome 309900
Huntingtons Disease (Huntingtons Chorea) 143100
Hydrocephalus307000
Hydroxyisobuyryl CoA Hydrolase Deficiency 250620
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant147060
Hyper IgM Syndrome - Hypogammaglobulinaemia*300386
Hypochondroplasia146000
Hypophosphatasia (Infantile/ Perinatal lethal)241500
Hypophosphatemic Rickets: X-linked dominant (Xlh)307800
Hypospadias (severe) 
Ichthyosis308100
Idiopathic Arterial Calcification of Infancy208000
Incontinentia Pigmenti 308300
Infantile Neuroaxonal Dystrophy 1256600
Inflammatory Bowel Disease, Early-onset (IBD28)613148/ 612567
IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked)304790
Juvenile Retinoschisis 312700
Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS)530000/ 557000
Krabbe Disease245200
L–2-Hydroxyglutaric aciduria236792
Leber's hereditary optic neuropathy / Lebers Optic atrophy535000
Leber Congenital Amaurosis 204000/ 204100
Leigh's (subacute necrotising encephalopathy of childhood) 516000; 516002; 516005; 516006
Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy)185620
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 & 6613688
Lowe Oculocerebrorenal Syndrome309000
Lymphoproliferative Syndrome308240
Lynch syndrome / HNPCC (MLH1 gene)609310
Lynch syndrome / HNPCC (MSH2 gene)120435
Macular Dystrophy (childhood onset - variant of Retinitis pigmentosa)312600
Macular Dystrophy Retinal 2608051
Malignant Infantile Osteopetrosis259700
Maple Syrup Urine Disorder (MSUD)248600
Marfan Syndrome154700
Meckel-Gruber Syndrome Type 3607361
Medium-chain acyl-Co A dehydrogenase231680
Medium-Chain Acyl-CoA Dehydrogenase Deficiency201450
MELAS (Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) 590050
Menkes Syndrome309400
Metachromatic Leukodystrophy250100
Methylmalonic Aciduria and Homocystinuria277400
Micro Syndrome (WARBM)600118
Mitochondrial DNA Depletion Syndrome 2 (myopathic type)609560
Mucolipidosis type II252500
Mucopolysaccharidosis III (MPS-III) Type B252920
Mucopolysaccharidosis III (MPS-III) Type C252940
Mucopolysaccharidosis III (MPS-III) Type D252930
Mucopolysaccharidosis Type I (MPS I)607014, 607015, 607016
Mucopolysaccharidosis type VI253200
Multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric aciduria type II) 231680
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 Exostoses133700
Multiple Lentigines Syndrome (LEOPARD Syndrome)151100
Multiple Pterygium Syndrome Lethal Form(LMPS) 253290
Muscle-Eye-Brain Disease253280
Muscular Dystrophy-dystroglycanopathy Type A5613153
Muscular Dystrophy (Beckers)300376
Muscular Dystrophy (Duchenne)310200
Muscular dystrophy (Occulopharangeal) 
Muscular dystrophy, Limb-Girdle (LGMD) Type 1B159001
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 A257200
Niemann Pick Disease Type C 257220
Non-Ketotic Hyperglycinaemia (NKH)/ Glycine Encephalopathy (GCE)605899
Noonan Syndrome163950
Norrie Disease310600
Oculocutaneous Albinism Type 1A203100
Oculocutaneous Albinism Type 1B606952
Omenn Syndrome603554
Optic Atrophy 1165500
Ornithine carbamoyl transferase Deficiency (OTC) 300461
Ornithine transcarbamylase deficiency (OTD)311250
Osteogenesis Imperfecta (Type II)120160
Osteogenesis Imperfecta (Type III)259420
Osteogenesis Imperfecta type 1A166240
Osteogenesis Imperfecta type IV , type V , type VI166220/610967/610968
Osteogenesis Imperfecta Type1 (OI1)166200
Osteopetrosis with Renal Tubular Acidosis (OPTB3)259730
Osteopetrosis, Autosomal Recessive 5 and Osteopetrosis, Infantile Malignant 3259720
Ostheopathia Striata with Cranial Sclerosis (OSCS) 300373
Otopalatodigital syndrome (Type 2)304120
Pachyonychia Congenita Type 1167200
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 syndrome601975
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 Syndrome119500
Prader Willi Syndrome 176270
Progressive Familial Intraheptic Chloestasis Cholestasis Type 1 (PFIC1)211600
Propionic Acidemia606054
Pseudoachondroplasia177170
Pseudohypoparathyroidism PHP1a 103581
Pyrodoxine-dependent seizures266100
Pyruvate Dehydrogenase E1-beta Deficiency179060
Recessive Dystrophic Epidermolysis Bullosa* (Halleau-Siemens & Herlitz junctional)various
Recurrent Digynic Triploidy 
Recurrent hydatitiform mole231090
Renal Coloboma Syndrome120330
Retinitis Pigmentosa300455
Retinoblastoma180200
Retinoschisis (Juvenile)312700
Rett Syndrome RTT and Neonatal Encephalopathy312750/300673
Rhesus disease/ Haemolytic Disease of the Newborn (HDN) 
Rothmund-Thomson Syndrome (RTS)268400
Sandhoff Disease268800
Sanfilippo or Mucopolysaccharidosis Type III A252900
Sanjad Sakati Syndrome241410
Seathre-Chotzen101400
Senior Loken Syndrome 6610189
Sensorineural deafness - autosomal recessive non-syndromic 220290
Severe Combined Immune Deficiency (x-linked)300400
Severe Combined Immunodeficiency – autosomal recessive600802
Severe Combined Immunodeficiency (SCID)601457
Severe Combined Immunodeficiency (SCID) (Adenosine Deaminase (ADA) deficient) 102700
Sickle Cell Anaemia* 603903
Simpson Golabi Behmel Syndrome Type 1312870 (to detect affected males)
Smith Lemli Opitz Syndrome270400
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 6183086
Spondyloepiphyseal Dysplasia Congenita183900
Stickler Syndrome type 1, 2, 3 and autosomal recessive108300/609508, 604841, 184840, 120210
Stuve-Wiedemann Syndrome601559
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)271980
Surfactant Metabolism Dysfunction, Pulmonary 1 (SMDP1)265120
Tay Sachs Disease (infantile onset)272800
Torsion Dystonia128100
Townes-Brocks Syndrome 107480
Treacher Collins Syndrome 154500
Treacher Collins Syndrome Type 2 (TCS2)613717
Tuberous Sclerosis (TSC2)191100
Turner's syndrome (Mosaic) 
Tyrosinaemia Type 1276700
Ullrich Muscular Dystrophy254090
Von Hippel Lindau (VHL) Syndrome 193300
Walker Warburg Syndrome (Muscular dystrophy dystroglycanopathy)236670
Wiscott-Aldrich Syndrome* 301000
Wolcott-Rallison Syndrome226980
Wolman's Disease (Acid Lipase Deficiency)278000
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
X Linked Retinitis Pigmentosa (RP3)300029

* 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). World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim

Page last updated: 20/04/2014

Genetic conditions awaiting HFEA consideration

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.

See a list of the genetic conditions that UK fertility clinics have applied to test for:

...see the list

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