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 d264600
Acute Intermittent Porphyria176000
Acute Recurrent Autosomal Recessive Rhabdomyolysis (ARARRM)268200
Adrenoleukodystrophy (Adrenomyeloneuropathy)300100
Agammaglobulinaemia 300755
Alpers Syndrome203700
alpha thalassaemia/mental retardation syndrome301040
Alports Syndrome301050
Alzheimers Disease - early onset104300
Anderson Fabry Disease 301500
Androgen Insensitivity Syndrome 300068
Aplastic anaemia - severe-
Autosomal Dominant Polycystic Kidney Disease (ADPKD)173900
Barth Syndrome302060
Battens Disease (infantile)204200
Beta Hydroxyisobuyryl CoA Hydrolase Deficiency (Methacryic Aciduria) 250620
Beta Thalassaemia 141900
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 Cavernous Malformations (CCM)116860
Charcot Marie Tooth Disease 302800
Chondrodysplasia Punctata302950
Choroideraemia 303100
Chromosomal rearrangements (various)-
Chronic Granulomatous Disease 306400
Citrullinaemia type 1215700
Coffin-Lowry Syndrome 303600
Congenital Adrenal Hyperplasia (21 hydroxylase deficiency)201910
Congenital Fibrosis of the Extraocular Muscles 135700
Congenital Stationary Night Blindness310500
Crouzon Syndrome 123500
Cystic Fibrosis 219700
Cystinosis219800
Czech dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplast%609162
Diamond Blackfan Anaemia105650
Downs syndrome190685
Dystonia 1 Torsion Autosomal Dominant (DYT1)128100
Ectodermal dysplasia (Hypohidrotic)305100
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC)129900
Ehlers-Danlos Type IV130050
Epidermolysis Bullosa (Hallopeau-Siemens & Herlitz junctional)various
Facioscapulohumeral Dystrophy158900
Familial Adenomatous polyposis coli (FAP) 600403
Fanconis Anaemia A607139
Fanconis Anaemia C227645
Fragile X Syndrome 309550
Gaucher's Disease (Type II)230900
Gonadal mosaicism -
Greig's Cephalopolysyndactyly175700
Haemophilia A 306700
Haemophilia B 306900
Harlequin Ichthyosis242500
Hereditary diffuse gastric cancer137215
Hereditary motor and sensory neuropathies 302800
Homozygous familial hypercholesterolaemia143890
Hunters Syndrome 309900
Huntingtons Disease (Huntingtons Chorea) 143100
Hydrocephalus307000
Hydroxyisobuyryl CoA Hydrolase Deficiency 250620
Hyper IgM Syndrome - Hypogammaglobulinaemia300386
Hypophosphatasia (Infantile/ Perinatal lethal)241500
Hypophosphatemic Rickets: X-linked dominant (Xlh)307800
Hypospadias (severe)-
Ichthyosis308100
Incontinentia Pigmenti 308300
Juvenile Retinoschisis 312700
Krabbe Disease245200
Leber's hereditary optic neuropathy / Lebers Optic atrophy535000
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 (MLH 1)120435
Lynch syndrome (MLH 2)609310
Macular Dystrophy (childhood onset - variant of Retinitis pigmentosa)312600
Marfan Syndrome154700
Medium-chain acyl-Co A dehydrogenase231680
MELAS (Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) 590050
Menkes Syndrome309400
Metachromatic Leukodystrophy250100
Multiple Endocrine Neoplasia (Type I)131100
Multiple Endocrine Neoplasia Type 2A (MEN type 2A)171400
Multiple Exostoses133700
Muscle-Eye-Brain Disease253280
Muscular Dystrophy (Beckers)300376
Muscular Dystrophy (Duchenne)310200
Muscular dystrophy (Occulopharangeal)-
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
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
Osteopetrosis, Autosomal Recessive 5 and Osteopetrosis, Infantile Malignant 3259720
Ostheopathia Striata with Cranial Sclerosis (OSCS) 300373
Otopalatodigital syndrome (Type 2)304120
Paragangliomas 4 (plg 4)115310
Partial Lipodystrophy, Familial (Type 2)151660
Pelizaeus Merzbacher Disease 312080/311601
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
Pyrodoxine-dependent seizures266100
Recurrent Digynic Triploidy-
Recurrent hydatitiform mole231090
Retinitis Pigmentosa300455
Retinoblastoma180200
Retinoschisis (Juvenile)312700
Sandhoff Disease268800
Sanfilippo or Mucopolysaccharidosis Type III A252900
Sensorineural deafness - autosomal recessive non-syndromic 220290
Severe Combined Immune Deficiency (x-linked)300400
Sickle Cell Anaemia 603903
Smith Lemli Opitz Syndrome270400
Spastic paraplegia-
Spinal Muscular Atrophy (SMA1)253300
Spinal Muscular Atrophy and Respiratory Distress (SMARD1)604320
Stuve-Wiedemann Syndrome601559
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)271980
Tay Sachs Disease (infantile onset)272800
Torsion Dystonia128100
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: 02 September 2010

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

HFEA e-updates

Get monthly updates on HFEA news, policy and guidance sent to your inbox.

Sign up for our e-update today.

 

...subscribe to e-updates