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
46XY Sex Reversal 6613762
5 Alpha Reductase Deficiency (5ARD) insofar as that condition affects males, with simultaneous sex determination264600
Abetalipoproteinemia (also known as aconthocytosis, microsomal triglyceride transfer protein deficiency and Bassen-Kornweig syndrome)200100
Achondrogenesis Type 1a600972
Acute Intermittent Porphyria176000
Acute Recurrent Autosomal Recessive Rhabdomyolysis (ARARRM)268200
Adrenoleukodystrophy (Adrenomyeloneuropathy)300100
Agammaglobulinaemia (x-linked)300755
Agammaglobulinemia Bruton Tyrosine Kinase (BTK)300300
Aicardi Goutieres Syndrome 1 (AGS1)225750
Aicardi Goutieres syndrome types 2, 3, 4, 5 and 6610181, 610329, 606034, 606754, 146920
Alagille Syndrome118450
Alpers Syndrome203700
Alpha-1-antitrypsin deficiency+107400 (where two Z alleles are inherited)
Alpha Thalassaemia/mental retardation Syndrome*301040
Alpha Thalassemia141800
Alport Syndrome 203780
Alports Syndrome301050
Alports Syndrome (Autosomal Dominant) 104200
Alzheimer's Disease - early onset (Type 3 and 4)607822/ 606889
Alzheimers Disease - early onset104300
Amyotrophic Lateral Sclerosis 1 (ALS1)105400
Amyotrophic Lateral Sclerosis Frontotemporal Dementia105550
Anauxetic Dysplasia607095
Anderson Fabry Disease 301500
Androgen Insensitivity Syndrome 300068
Angelman Syndrome (UBE3A gene only)105830
Antithrombin III Deficiency613118
Aplastic anaemia - severe* 
Argininosuccinic Aciduria207900
Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant 
Arthrogryposis renal dysfunction and cholestasis type 1 and type 2 208085, 613404
Ataxia Telangiectasia208900
Atrial Septal Defect (ASD) 7 with or without motor conduction defects108900
Autosomal Dominant Acute Necrotizing Encephalopathy 608033
Autosomal dominant familial exudative vitreoretinopathy types 1, 5 and 4,133780, 613310, 601813
Autosomal Dominant Polycystic Kidney Disease (ADPKD)173900
Autosomal Dominant Retinitis Pigmentosa604485
Autosomal Dominant Retinitis Pigmentosa Type 4613731
Autosomal Recessive Dopa Responsive Dystonia233910
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (ARSCIDBSD)267500
Axenfeld-Rieger syndrome types 1 and 3180500, 602482
Bardet-Biedl Syndrome (BBS) 209900
Barth Syndrome302060
Bartter Syndrome, Types 1, 2, 3, 4a & 4b601678, 241200, 607364, 602522, 613090
Battens Disease (infantile)204200
Beckwith-Wiedemann Syndrome caused by a mutation on the CDKN1C gene or inheritance of a chromosome translocation, deletion or duplication affecting the chromosome 11 Beckwith Wiedemann syndrome region 
Beta Hydroxyisobutyryl CoA Hydrolase Deficiency (Methacrylic Aciduria) 250620
Beta Thalassaemia* 141900
Bethlem Myopathy158810
Bilateral Frontoparietal Polymicrogyria606854
Birt-Hogg-Dubé Syndrome135150
Bloom Syndrome210900
Branchio-Oto-Renal Syndrome (BOR)113650
BRCA 1 (increased susceptibility to breast cancer)113705
Breast Ovarian Cancer Familial Susceptibility (BRCA2)612555/600185
Brooke-Spiegler Syndrome (BSS)605041
Canavan Disease271900
Cardiac Valvular Dysplasia 314400
Carney Complex160980 and 605224
Carnitine Acylcarnitine Translocase Deficiency (CACT)212138
Cartilage-Hair Hypoplasia250250
Cartilage-hair hypoplasia spectrum157660
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1) 604772
Catecholaminergic Polymorphic Ventricular Tachychardia 2 (CPVT2)611938
Central Core Disease of Muscle (CCD)117000
Centronuclear Myopathy160150
Cerebral Autosomal Dominant Arteriopathy with Sub cortical infarcts and Leukoencephalopathy (CADASIL)125310
Cerebral Cavernous Malformations (CCM)116860
Cerebral Cavernous Malformations 3603285
Cerebro-oculo-facial-skeletal syndrome type 3616570
Charcot Marie Tooth Disease (x-linked)302800
Charcot Marie Tooth Disease Type 2 609260
Charcot Marie Tooth Disease, demyelinating type 1A (CMT1A)118220
CHARGE Syndrome 214800
Chondrodysplasia Punctata302950
Choroideraemia 303100
Christianson syndrome300243
Chromosomal rearrangements (various) 
Chronic Granulomatous Disease (CGD)306400
Citrullinaemia type 1215700
Classical Ehlers Danlos Syndrome130000/130010
Cockayne Syndrome type A and B216400, 133540
Coffin-Lowry Syndrome 303600
Cohen Syndrome216550
Combined Oxidative Phosphorylation Deficiency 5, (COXPD5)611719
Congenital Adrenal Hyperplasia (21 hydroxylase deficiency)201910
Congenital Cataracts601885
Congenital Contractual Arachnodactyly (Beals Syndrome)121050
Congenital contractual syndrome 7616286
Congenital Disorder of Glycosylation type 1a 212065
Congenital Dyserythropoietic Anaemia types 1a, 1b and 2224120, 615631, 224100
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
Congenital Steroid Resistant Nephrotic Syndrome600995
Conradi-Hunermann-Happle Syndrome302960
Cowden syndrome (CS)/PTEN Hamartoma Tumour Syndrome (PHTS)601728
Craniofrontal Dysplasia304110
Crouzon Syndrome 123500
Cystic Fibrosis 219700
Czech Dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toes609162
Danon Disease300257
Dentatorubral-Pallidoluysian Atrophy (DRPLA)125370
Desbuquois Dysplasia (DBQD)251450
Diamond Blackfan Anaemia*105650
Diarrheoa 5 with tufting enteropathy congenital613217
Dilated Cardiomyopathy and Left Ventricular Noncompaction 5613426
Dilated Cardiomyopathy caused by a mutation in the Tropomyosin alpha-1 chain611878
Dilated Cardiomyopathy type 1A caused by a mutation in the LMNA gene115200
Distal Hereditary Motor Neuropathy type IIB608634
Distal Renal Tubular Acidosis with progressive nerve deafness602722, 267300
Dominant Dystrophic Epidermolysis Bullosa131750
Donohue Syndrome246200
Dopamine Responsive Dystonia (DRD)128230
Downs Syndrome190685
Dravet Syndrome 607208
Duane-radial ray syndrome (Okihiro syndrome, acro-renal-ocular syndrome, SALL4-related Holt Oram syndrome)607323
Dyskeratosis congenita (Male embryos only)305000
Dyskeratosis Congenita due to TERC mutation127550
Dyskeratosis Congenita types A2 and B4, due to TERT mutation613989
Dystonia 1 Torsion Autosomal Dominant (DYT1)128100
Early Infantile Epileptic Encephalopathy (EIEE) 10 - MCSZ613402
Early Infantile Epileptic Encephalopathy (EIEE) 12613722
Early Infantile Epileptic Encephalopathy (EIEE) 15615006
Early Infantile Epileptic Encephalopathy (EIEE) 16615338
Early Infantile Epileptic Encephalopathy (EIEE) 18615476
Early Infantile Epileptic Encephalopathy (EIEE) 21615833
Early Infantile Epileptic Encephalopathy (EIEE) 23615859
Early Infantile Epileptic Encephalopathy (EIEE) 25615905
Early Infantile Epileptic Encephalopathy (EIEE) 28616211
Early Infantile Epileptic Encephalopathy (EIEE) 29616339
Early Infantile Epileptic Encephalopathy (EIEE) 3609304
Early Infantile Epileptic Encephalopathy (EIEE) 34616645
Early Infantile Epileptic Encephalopathy (EIEE) 35616647
Early Infantile Epileptic Encephalopathy (EIEE) 37616981
Early Infantile Epileptic Encephalopathy (EIEE) 38617020
Early Infantile Epileptic Encephalopathy (EIEE) 39612949
Early Infantile Epileptic Encephalopathy (EIEE) 40617065
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
Emery-Dreifuss Muscular Dystrophy (x-linked) (EDMD) (Male embryos only)310100
Epidermolysis bullosa, lethal acantholytic609638
Epilepsy, female restricted, with mental retardation (EFMR)300088
Episodic Ataxia Type 2 108500
Facioscapulohumeral Dystrophy (FSH)158900
Facioscapulohumeral Muscular Dystrophy Type 2158901
Factor XIII deficiency613225
Familial Adenomatous polyposis coli (FAP) 175100
Familial Dilated Cardiomyopathy caused by mutations in TROPONIN T2 gene (TNNT2)191045
Familial Dysautonomia223900
Familial Hemophagocytic Lymphohistiocytosis (FHL)603553
Familial Hemophagocytic Lymphohistiocytosis 5 613101
Familial Hyperinsulinism256450
Familial Hypertrophic Cardiomyopathy 4 (CMH4)115197
Familial Hypertrophic Cardiomyopathy type 1, 3, 7 and 10192600, 115196, 613690, 608758
Familial Juvenile Hyperuricemic Nephropathy 1 (FJHN1)162000
Familial Paranganglioma Syndrome (PGL1)168000
Familial thoracic aortic aneurysm and dissection (TAAD)611788
Fanconis Anaemia A*607139
Fanconis Anaemia C*227645
FAS-Associated Death Domain Protein Deficiency613759
Fetal Akinesia Deformation Sequence (Pena-Shokeir syndrome type 1)208150
Finnish Nephrotic Syndrome256300
Focal Dermal Hypoplasia305600
Focal Segmental Glomerulosclerosis 7 (FSGS7)616002
Fragile X Syndrome (FRAX)309550
Fraser Syndrome219000
Fried Syndrome300630
Friedreich Ataxia 1229300
Frontometaphyseal Dysplasia305620
Frontotemporal Dementia600274
Frontotemporal Dementia with Parkinsonism607485
Galactosialidosis (early infantile and adult/ juvenile types)256540
Gangliosidosis (GM1)230500
Gaucher Disease Type II230900
Gaucher Disease Type III231000
Gerstmann-Straussler-Scheinker syndrome137440
Glanzmann Thrombasthenia273800
Glutaric Acidemia (aciduria)231670
Glycogen Storage Disease II (Pompe Disease (early onset))232300
Glycogen Storage Disease Type 4, (GSD4)232500
Glycogen Storage Disease Type Ia232200
Gonadal mosaicism  
Gorlin Syndrome 109400
Greig Cephalopolysyndactyly175700
Haemoglobin SC disease141900.0038
Haemophilia A 306700
Haemophilia B 306900
Hereditary diffuse gastric cancer137215
Hereditary Haemorrhagic Telangiectasia (HTT) or Rendu-Osler-Weber Syndrome187300
Hereditary Multiple Exostoses Type II133701
Hereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (for all subtypes) 
Hereditary Sensory Neuropathy type 1A162400
Hirschsprung Disease caused by a mutation in the RET gene 
Holt Oram Syndrome142900
Homozygous familial hypercholesterolaemia143890
Huntington Disease (Huntington Chorea) 143100
Hydroxyisobuyryl CoA Hydrolase Deficiency 250620
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant147060
Hyper IgM Syndrome - Hypogammaglobulinaemia*300386
Hyperphosphatasia with Mental Retardation Syndrome 4 (HPMRS4) 615716
Hypophosphatasia (Infantile/perinatal lethal)241500
Hypophosphatemic Rickets (x-linked dominant) (Xlh)307800
Hypospadias (severe) 
Ichthyosis (Harlequin)242500
Ichthyosis (x-linked)308100
ichthyosis with confetti609165
Ichythosis hystrix of Curth-Macklin146590
Idiopathic Arterial Calcification of Infancy208000
Incontinentia Pigmenti (IP)308300
Infantile Neuroaxonal Dystrophy 1256600
Inflammatory Bowel Disease, Early-onset (IBD28)613148/ 612567
IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked)304790
Isolated Microphthalmia 2 (MCOP2)610093
Joubert Syndrome 5,610188
Joubert Syndrome 6610688
Joubert Syndrome, types 1-4, 7-9, 13-18 and 20-26213300, 608091, 608629, 609583, 611560, 612291, 612285, 614173, 614424, 614464, 614465, 614615, 6148
Juvenile Polyposis Syndrome 174900
Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS)530000/ 557000
Krabbe Disease245200
L–2-Hydroxyglutaric aciduria236792
Lacrimo-auriculo-dento-digital syndrome149730
Langers Mesomelic Dysplasia (LMD) 249700
Leber's Hereditary Optic Neuropathy (LHON) / Lebers Optic atrophy535000
Leber Congenital Amaurosis (LCA)204000 / 204100
Leber congenital amaurosis, type 7 (autosomal recessive only) 613829
Leber congenital amaurosis, types 3, 4, 5, 6, 8, 9, 10, 12, 13, 14, 15, 16, 17604232, 604393, 604537, 613826, 613835, 608553, 611755, 613837, 610612, 612712, 613341, 613843, 6141
Leigh's (subacute necrotising encephalopathy of childhood) 516000; 516002; 516005; 516006
Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy)185620
Leigh Syndrome, French Canadian type (LSFC)220111
Lenz Syndrome 309800
Lesch Nyan Syndrome 300322
Lethal Multiple Pterygium Syndrome (LMPS) 253290
Leukocyte Adhesion Deficiency (Type I)*116920
Leukoencephalopathy with Vanishing White Matter603896
Lewy body dementia127750
Li-Fraumeni Syndrome 151623
Lissencephaly 2 (Norman-Roberts type) (LIS-2), 257320
Lissencephaly, type 3 611603
Loeys-Dietz syndrome types 1 and 2609192, 610168
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)609016
Long QT Syndrome Types 1, 2, 3, 5 & 6192500, 613688, 603830, 613695, 613693
Lowe Oculocerebrorenal Syndrome309000
Lubs X-linked mental retardation syndrome MRXSL (MECP2 Duplication syndrome)300260
Lymphoproliferative Syndrome308240
Mabry Syndrome (Hyperphosphatasia mental retardation syndrome-HPMRS), Type 1239300
Macular Dystrophy (childhood onset - variant of Retinitis pigmentosa)312600
Macular Dystrophy Retinal 2608051
Malignant Infantile Osteopetrosis259700
Maple Syrup Urine Disorder (MSUD)248600
Marfan Syndrome154700
Matthew Wood-like syndrome (Microphthalmia syndrome615524
Meckel-Gruber Syndrome Types 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 and 11249000, 603194, 607361, 611134, 611561, 612284, 267010, 613885, 614209, 614175 and 615397
Medium-Chain Acyl-CoA Dehydrogenase Deficiency201450
Medullary Cystic Kidney Disease 2 (MCKD2) (also known as Autosomal Dominant Tublointerstitial Kidney Disease due to Uromodulin Mutations (ADTKD-UMOD)603860
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes) 590050
Melnick Needles Syndrome309350
Menkes Syndrome309400
Mental Retardation, X-linked, Syndromic 34, caused by NONO gene mutation300967
Merosin Deficient Congenital Muscular Dystrophy type 1A (MDC1A) (also known as LAMA2-related Muscular Dystrophy)607855
Metachromatic Leukodystrophy250100
Metaphyseal Dysplasia without Hypotrichosis250460
Methylmalonic Acidemia (MMA)251000
Methylmalonic Acidemia cb1A251100
Methylmalonic Acidemia cb1B251110
Methylmalonic Aciduria and Homocystinuria277400
Micro Syndrome (WARBM)600118
Microcephaly with or without chorioretinopathy, lymphoedema or mental retardation152950
Mitochodrial Trifunctional Protein Deficiency 609015
Mitochondrial Complex 1 Deficiency caused by mutation in ACAD9 gene611126
Mitochondrial Complex 1 Deficiency caused by mutation in the NDUFS6 gene 603848
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 IVA253000
Mucopolysaccharidosis Type I (MPS I)607014, 607015, 607016
Mucopolysaccharidosis Type II (Hunter Syndrome)309900
Mucopolysaccharidosis Type III A (Sanfilippo syndrome A)252900
Mucopolysaccharidosis Type VI (MPS VI) (Maroteaux-Lamy Syndrome)253200
Muenke Syndrome 602849
Multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric aciduria type II) 231680
Multiple Endocrine Neoplasia Type 2A (MEN 2A)171400
Multiple Endocrine Neoplasia type 2B (MEN 2B)162300
Multiple Endocrine Neoplasia Type I131100
Multiple Epiphyseal Dysplasia Type 5 (MED5)607078
Multiple Exostoses133700
Multiple Lentigines Syndrome (LEOPARD Syndrome)151100
Multiple Pterygium Syndrome Lethal Form(LMPS) 253290
Multiple Pterygium Syndrome, Escobar variant, EVMPS265000
Muscular dystrophy-dystroglycanopathy, type A1 (Walker Warburg Syndrome)236670
Muscular dystrophy-dystroglycanopathy, type A3 (muscle-eye-brain disease)253280
Muscular dystrophy-dystroglycanopathy, type A5613153
Muscular dystrophy-dystroglycanopathy, types A2, A4, A6-A8 and A10-A14613150, 253800, 613154, 614643 614830, 615041, 615181, 615249, 615287, 615350
Muscular Dystrophy (Beckers)300376
Muscular Dystrophy (Duchenne)310200
Muscular Dystrophy (Oculopharangeal)164300
Muscular dystrophy, Limb-Girdle (LGMD) Type 1B159001
Myoclonic Epilepsy and Ragged Red Fibres (MERRF) 
Myoclonic epilepsy associated with ragged-red fibres (associated mutation, m.8344 A>G in the MTTK gene)545000
Myoclonus Dystonia159900
Myotonic Dystrophy 160900
Myotonic Dystrophy type 2602668
Myotubular myopathy 310400/300219
Nail-Patella Syndrome161200
Nance-Horan Syndrome 613101
Nance-Horan Syndrome 302350
Nemaline myopathy type 2256030
Nephrogenic Diabetes Insipidus (NDI)304800
Neurofibromatosis type 1162200
Neurofibromatosis Type 2101000
Neurogenic muscle weakness, Ataxia, Retinitis Pigmentosa (NARP)516060
Neuropathy, distal hereditary motor, type IIA (HMN2A)158590
Niemann Pick Disease Type A257200
Niemann Pick Disease Type C 257220
non-Herlitz Junctional Epidermolysis Bullosa 226650
Non-Ketotic Hyperglycinaemia (NKH)/ Glycine Encephalopathy (GCE)605899
Noonan Syndrome163950
Norrie Disease310600
Oculocutaneous Albinism Type 1A203100
Oculocutaneous Albinism Type 1B606952
Oculocutaneous albinism type 2203200
Omenn Syndrome603554
Optic Atrophy 1165500
Ornithine carbamoyltransferase Deficiency (OTC) 300461
Ornithine transcarbamylase deficiency (OTD)311250
Osteogenesis Imperfecta type 1A166240
Osteogenesis Imperfecta Type II120160
Osteogenesis Imperfecta Type III259420
Osteogenesis Imperfecta type IV , type V , type VI166220/610967/610968
Osteogenesis Imperfecta Type VIII 610915
Osteogenesis Imperfecta Type1 (OI1)166200
Osteopetrosis with Renal Tubular Acidosis (OPTB3)259730
Osteopetrosis, Autosomal Recessive 5 (OPTB5) and Osteopetrosis, Infantile Malignant 3259720
Ostheopathia Striata with Cranial Sclerosis (OSCS) 300373
Otopalatodigital syndrome Type 2304120
Otopalatodigital type 1311300
Pachyonychia Congenita Type 1167200
Paragangliomas 4 (plg 4)115310
Paramytonia Congenita (PMC)168300
Parkinson's Type 8607060
Parkinson’s disease 1 168601
Parkinson’s disease 4605543
Partial androgen insensitivity syndrome due to defects in the androgen receptor gene312300
Partial Lipodystrophy, Familial Type 2151660
Pelizaeus Merzbacher Disease 312080/311601
Pendred Syndrome274600
Peroxisome Biogenesis Disorders (PBD) (Zellweger Syndrome Spectrum (ZSS)) 
Peutz-Jeghers Syndrome175200
Phenylketonuria (PKU)261600
Plakophilin 1 (PKP1) associated ectodermal dysplasia syndrome601975
Polycystic kidney disease 263200
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
Porencephaly 1175780
Prader Willi Syndrome 176270
Progressive External Opthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3 (PEOA3)609286
Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1)211600
Propionic Acidemia606054
Pseudohypoparathyroidism (PHP1a)103581
Pyrodoxine-dependent seizures266100
Pyruvate dehydrogenase E1-alpha deficiency X-linked312170
Pyruvate Dehydrogenase E1-beta Deficiency179060
Recessive Dystrophic Epidermolysis Bullosa* (Halleau-Siemens & Herlitz junctional)various
Recurrent Digynic Triploidy 
Recurrent hydatitiform mole (HYDM1)231090
Reducing Body Myopathy300717
RELN-associated Lissencephaly257320
Renal Coloboma Syndrome120330
Renal Cysts and Diabetes (RCAD)Renal Cysts and Diabetes (RCAD)
Retinitis Pigmentosa (autosomal dominant) 180100
Retinitis Pigmentosa (RP3) (x-linked)300029
Retinitis Pigmentosa (x-linked)300455
Retinitis Pigmentosa Type 11 (RP11)600138
Retinitis Pigmentosa type 7608133
Retinoschisis (Juvenile)312700
Rett Syndrome (RTT) and Neonatal Encephalopathy312750 / 300673
Rhesus disease/ Haemolytic Disease of the Newborn (HDN) 
Rigid spine muscular dystrophy 602771
Rothmund-Thomson Syndrome (RTS)268400
Saethre-Chotzen Syndrome (SCS)101400
Sandhoff Disease268800
Sanjad Sakati Syndrome (SLSN6)241410
Seizures, Cortical Blindness, Microcephaly Syndrome (SCBMS)616632
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
Short-Rib Thoracic Dysplasia, types 2 - 11, 13 and 14611263, 613091, 613819, 614376, 263520, 614091, 615503, 266920, 615630, 615633, 616300, and 616546
Shwachman Diamond Syndrome (SDS)260400
Sickle Cell Anaemia* 603903
Simpson Golabi Behmel Syndrome Type 1312870 (to detect affected males)
Smith Lemli Opitz Syndrome (SLO)270400
Sotos Syndrome117550
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
spinal muscular atrophy type 1 253550
spinal muscular atrophy type 2253400
Spinocerebellar Ataxia 7 (SCA 7)164500
Spinocerebellar Ataxia Autosomal Recesive 20, SCAR20 (SNX14-related cerebellar hypoplasia)616354
Spinocerebellar Ataxia Type 1 (SCA1)164400
Spinocerebellar ataxia type 14605361
Spinocerebellar Ataxia Type 2 (SCA2)183090
Spinocerebellar Ataxia Type 3 (SCA 3) (Machado Joseph Disease)109150
Spinocerebellar Ataxia Type 6 (SCA6)183086
Split hand/foot malformation 3 (SHFM3)246560
Spondyloepimetaphyseal dysplasia, Strudwick184250
Spondyloepiphyseal Dysplasia Congenita183900
Stickler Syndrome Type I, II, III and IV108300/609508, 604841, 184840, 120210
Stuve-Wiedemann Syndrome (Schwartz-Jampel Type 2 syndrome)601559
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)271980
Surfactant Metabolism Dysfunction, Pulmonary 1 (SMDP1)265120
Surfactant Metabolism Dysfunction, Pulmonary, type 2610913
Tay Sachs Disease (infantile onset)272800
Townes-Brocks Syndrome 107480
Treacher Collins Syndrome 154500
Treacher Collins Syndrome Type 2 (TCS2)613717
Trichorhinophalangeal syndrome type 1190350
Tuberous Sclerosis (TSC1 and TSC2)191100, 613254
Turner's syndrome (Mosaic) 
Tyrosinaemia Type 1276700
Ullrich Congenital Muscular Dystrophy (UCMD) 254090
Usher syndrome type 1 (including subtypes 1B, 1C, 1D, 1F, 1G, 1J)276900 276904 601067 602083 606943 614869
Usher syndrome type 2 (including subtypes 2A, 2C and 2D)276901, 605472, 611383
Van der Woude Syndrome119300
Vici syndrome242840
Von Hippel Lindau (VHL) Syndrome 193300
Waardenburg Syndrome Type I193500
Waardenburg Syndrome Type IIa193510
Waardenburg Syndrome Type IId608890
Waardenburg Syndrome Type IIe611584
Waardenburg Syndrome Type III148820
Waardenburg Syndrome Type IVa277580
Waardenburg Syndrome Type IVb613265
Waardenburg Syndrome Type IVc613266
Wiscott-Aldrich Syndrome* 301000
Wolcott-Rallison Syndrome226980
Wolman's Disease (Acid Lipase Deficiency)278000
X-linked Adrenal Hypoplasia Congenita (XL-AHC)300200
X-linked lissencephaly 300067
X-Linked Lymphoproliferative Disease Type 2 (XLP2) (Male Embryos Only)300365
X-linked Ocular Albinism300500
X-Linked Opitz G / BBB Syndrome300000
X-Linked Thrombocytopenia (XLT)313900
X Linked Periventricular Heterotopia 300049
XMEN syndrome (X Linked magnesium defect, EBV, neoplasia)300853

* 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:

Page last updated: 23/06/2017

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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