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 licensedOMIM1 number
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
Alpers Syndrome203700
alpha thalassaemia/mental retardation syndrome*301040
Alpha-1-antitrypsin deficiency+107400 (where two Z alleles are inherited)
Alpha-mannosidosis248500
Alports Syndrome301050
Alzheimers Disease - early onset104300
Amyotrophic Lateral Sclerosis 1 (ALS1)105400
Anderson Fabry Disease 301500
Androgen Insensitivity Syndrome 300068
Aplastic anaemia - severe*-
Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant-
Ataxia Telangiectasia208900
Autosomal Dominant Polycystic Kidney Disease (ADPKD)173900
Autosomal Dominant Retinitis Pigmentosa604485
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness267500
Barth Syndrome302060
Battens Disease (infantile)204200
Beta Hydroxyisobuyryl CoA Hydrolase Deficiency (Methacryic 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
Cardiac Valvular Dysplasia 314400
Carney Complex160980 and 605224
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
Chondrodysplasia Punctata302950
Choroideraemia 303100
Chromosomal rearrangements (various)-
Chronic Granulomatous Disease 306400
Citrullinaemia type 1215700
Classical Ehlers Danlos Syndrome130000/130010
Coffin-Lowry Syndrome 303600
Congenital Adrenal Hyperplasia (21 hydroxylase deficiency)201910
Congenital Fibrosis of the Extraocular Muscles 135700
Congenital Stationary Night Blindness310500
Cowden syndrome (CS)/PTEN hamartoma tumour syndrome (PHTS)601728
Crouzon Syndrome 123500
Cystic Fibrosis 219700
Cystinosis219800
Czech dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toes609162
Diamond Blackfan Anaemia*105650
Dominant Dystrophic Epidermolysis Bullosa131750
Downs syndrome190685
Dyskeratosis congenita (Male embryos only)305000
Dystonia 1 Torsion Autosomal Dominant (DYT1)128100
Ectodermal dysplasia (Hypohidrotic)305100
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC)129900
Ehlers-Danlos Type IV130050
Elastin (ELN)-related Supravalvular Aortic Stenosis185500
Facioscapulohumeral Dystrophy158900
Factor XIII deficiency613225
Familial Adenomatous polyposis coli (FAP) 175100
Fanconis Anaemia A*607139
Fanconis Anaemia C*227645
Fragile X Syndrome 309550
Fraser Syndrome219000
Gangliosidosis (GM1)230500
Gaucher Disease Type III231000
Gaucher's Disease (Type II)230900
Glycogen Storage Disease Type 1A232200
Gonadal mosaicism -
Greig's Cephalopolysyndactyly175700
Haemophilia A 306700
Haemophilia B 306900
Harlequin Ichthyosis242500
Hereditary diffuse gastric cancer137215
Hereditary motor and sensory neuropathies 302800
Hereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (for all subtypes)-
Homozygous familial hypercholesterolaemia143890
Hunters Syndrome 309900
Huntingtons Disease (Huntingtons Chorea) 143100
Hydrocephalus307000
Hydroxyisobuyryl CoA Hydrolase Deficiency 250620
Hyper IgM Syndrome - Hypogammaglobulinaemia*300386
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant147060
Hypophosphatasia (Infantile/ Perinatal lethal)241500
Hypophosphatemic Rickets: X-linked dominant (Xlh)307800
Hypospadias (severe)-
Ichthyosis308100
Idiopathic Arterial Calcification of Infancy208000
Incontinentia Pigmenti 308300
Juvenile Retinoschisis 312700
Krabbe Disease245200
Leber's hereditary optic neuropathy / Lebers Optic atrophy535000
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
Leukocyte Adhesion Deficiency (Type I)*116920
Li-Fraumeni Syndrome 151623
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)609016
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
Marfan Syndrome154700
Medium-chain acyl-Co A dehydrogenase231680
MELAS (Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) 590050
Menkes Syndrome309400
Metachromatic Leukodystrophy250100
Methylmalonic Aciduria and Homocystinuria277400
Micro Syndrome (WARBM)600118
Mucolipidosis type II252500
Mucopolysaccharidosis III (MPS-III) Type B252920
Mucopolysaccharidosis III (MPS-III) Type C252940
Mucopolysaccharidosis III (MPS-III) Type D252930
Mucopolysaccharidosis type VI253200
Multiple Endocrine Neoplasia (Type I)131100
Multiple Endocrine Neoplasia Type 2A (MEN type 2A)171400
Multiple Endocrine Neoplasia type 2B (MEN 2B)162300
Multiple Exostoses133700
Muscle-Eye-Brain Disease253280
Muscular Dystrophy (Beckers)300376
Muscular Dystrophy (Duchenne)310200
Muscular dystrophy (Occulopharangeal)-
Muscular Dystrophy-dystroglycanopathy Type A5613153
Myoclonic epilepsy and ragged red fibres (MERFF)-
Myotonic Dystrophy 160900
Myotublar myopathy 310400/300219
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
Oculocutaneous Albinism Type 1A203100
Oculocutaneous Albinism Type 1B606952
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
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
Popliteal Pterigum Syndrome119500
Prader Willi Syndrome 176270
Propionic Acidemia606054
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
Retinitis Pigmentosa300455
Retinoblastoma180200
Retinoschisis (Juvenile)312700
Rett Syndrome RTT and Neonatal Encephalopathy312750/300673
Sandhoff Disease268800
Sanfilippo or Mucopolysaccharidosis Type III A252900
Sanjad Sakati Syndrome241410
Senior Loken Syndrome 6610189
Sensorineural deafness - autosomal recessive non-syndromic 220290
Severe Combined Immune Deficiency (x-linked)300400
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 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
Tay Sachs Disease (infantile onset)272800
Torsion Dystonia128100
Townes-Brocks Syndrome 107480
Treacher Collins Syndrome 154500
Tuberous Sclerosis (TSC2)191100
Turner's syndrome (Mosaic)-
Tyrosinaemia Type 1276700
Ullrich Muscular Dystrophy254090
Von Hippel Lindau (VHL) 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.

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: 09 Feb 2012 10:00 AM

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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