List of monogenic diseases detected by PGD

List of monogenic diseases analysed with PGD in accordance with the European Society for Human Reproduction and Embryology (ESHRE Consortium).

  • Achondroplasia
  • Adrenoleukodystrophy
  • Alpha thalassaemia
  • Alpha-1-antitrypsin deficiency
  • Alport syndrome
  • Amyotrophic lateral sclerosis
  • Beta thalassemia
  • Charcot-Marie-Tooth
  • Congenital disorder of glycosylation type 1a
  • Crouzon syndrome
  • Cystic fibrosis
  • Duchenne and Becker muscular dystrophy
  • Dystonia 1, Torsion
  • Emery-Dreifuss muscular dystrophy
  • Facioscapulohumeral dystrophy
  • Familial adenomatous polyposis
  • Familial amyloidotic polyneuropathy
  • Familial dysautonomia
  • Fanconi anaemia
  • Fragile X
  • Glutaric aciduria type 1
  • Haemophilia A and B
  • Hemophagocytic lymphohistiocytosis
  • Holt-Oram syndrome
  • Huntington's disease
  • Hyperinsulinemic hypoglycemia
  • Hypokalaemic periodic paralysis
  • Incontinentia pigmenti
  • Lynch syndrome
  • Marfan syndrome
  • Menkes disease
  • Metachromatic leukodystrophy
  • Mucopolysaccharidosis type II (Hunter syndrome)
  • Multiple endocrine neoplasia (MEN2)
  • Multiple exostosis
  • Myotonic dystrophy
  • Neurofibromatosis type I and II
  • Non-syndromic Sensorineural Deafness
  • Norrie syndrome
  • Osteogenesis imperfecta (brittle bone disease)
  • Polycystic kidney, autosomal dominant
  • Polycystic kidney, autosomal recessive
  • Pompe's syndrome
  • Sickle cell anaemia
  • Smith-Lemli-Opitz syndrome
  • Spastic paraplegia 4
  • Spinal and bulbar muscular atrophy
  • Spinal muscular atrophy
  • Spinocerebellar ataxia 1, 2 and 3
  • Spondylometaphyseal dysplasia (Schmidt)
  • Tay-Sachs disease
  • Treacher Collins
  • Tuberous sclerosis
  • Von Hippel-Lindau syndrome
     

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