List of genetic diseases for Preimplantation Genetic Diagnosis (PGD)

  • (PIGN gene) Multiple Congenital Anomalies Hypotonia – Seizures Syndrome 1
  • 5 Alpha Reductase Deficiency (5ARD) insofar as that condition affects males, with simultaneous sex determination
  • Achondroplasia
  • Acute Intermittent Porphyria
  • Acute Recurrent Autosomal Recessive Rhabdomyolysis (ARARRM)
  • Adrenoleukodystrophy (Adrenomyeloneuropathy)
  • Agammaglobulinaemia (x-linked)
  • Agammaglobulinemia Bruton Tyrosine Kinase (BTK)
  • Aicardi Goutieres Syndrome 1 (AGS1)
  • Alagille Syndrome
  • Alpers Syndrome
  • Alpha Thalassaemia/mental retardation Syndrome*
  • Alpha Thalassemia
  • Alpha-1-antitrypsin deficiency
  • Alpha-Mannosidosis
  • Alport Syndrome
  • Alports Syndrome
  • Alports Syndrome (Autosomal Dominant)
  • Alzheimers Disease - early onset
  • Alzheimer's disease - early onset (Type 3 and 4)
  • Amyotrophic Lateral Sclerosis 1 (ALS1)
  • Anauxetic Dysplasia
  • Anderson Fabry Disease
  • Androgen Insensitivity Syndrome
  • Angelman Syndrome (UBE3A gene only)
  • Aniridia
  • Aplastic anaemia - severe*
  • Argininosuccinic Aciduria
  • Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant
  • Arthrogryposis renal dysfunction and cholestasis type 1 and type 2
  • Ataxia Telangiectasia
  • Autosomal Dominant Acute Necrotizing Encephalopathy
  • Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Autosomal Dominant Retinitis Pigmentosa
  • Autosomal Recessive Dopa Responsive Dystonia
  • Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness (ARSCIDBSD)
  • Bardet-Biedl Syndrome (BBS)
  • Barth Syndrome
  • Battens Disease (infantile)
  • Beta Hydroxyisobutyryl CoA Hydrolase Deficiency (Methacrylic Aciduria)
  • Beta Thalassaemia*
  • Bethlem Myopathy
  • Bilateral Frontoparietal Polymicrogyria
  • Birt-Hogg-Dubé Syndrome
  • Branchio-Oto-Renal Syndrome (BOR)
  • BRCA 1 (increased susceptibility to breast cancer)
  • Breast Ovarian Cancer Familial Susceptibility (BRCA2)
  • Calpainopathy
  • Canavan Disease
  • Cardiac Valvular Dysplasia
  • Carney Complex
  • Carnitine Acylcarnitine Translocase Deficiency (CACT)
  • Cartilage-Hair Hypoplasia
  • Cartilage-hair hypoplasia spectrum
  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT1)
  • Catecholaminergic Polymorphic Ventricular Tachychardia 2 (CPVT2)
  • Central Core Disease of Muscle (CCD)
  • Cerebral Autosomal Dominant Arteriopathy with Sub cortical infarcts and Leukoencephalopathy (CADASIL)
  • Cerebral Cavernous Malformations (CCM)
  • Charcot Marie Tooth Disease (x-linked)
  • Charcot Marie Tooth Disease Type 2
  • Charcot Marie Tooth Disease, demyelinating type 1A (CMT1A)
  • CHARGE Syndrome
  • Chondrodysplasia Punctata
  • Choroideraemia
  • Chromosomal rearrangements (various)
  • Chronic Granulomatous Disease (CGD)
  • Citrullinaemia type 1
  • Classical Ehlers Danlos Syndrome
  • Coffin-Lowry Syndrome
  • Cohen Syndrome
  • Congenital Adrenal Hyperplasia (21-hydroxylase deficiency)
  • Congenital Disorder of Glycosylation type 1a
  • Congenital Fibrosis of the extraocular muscles
  • Congenital Myasthenic Syndrome (COLQ gene 603033) (Type Ic)
  • Congenital Secretory Chloride Diarrhoea
  • Congenital stationary night blindness
  • Conradi-Hunermann-Happle Syndrome
  • Cowden syndrome (CS)/PTEN Hamartoma Tumour Syndrome (PHTS)
  • Craniofrontal Dysplasia
  • Crouzon Syndrome
  • Cystic Fibrosis
  • Cystinosis
  • Czech Dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toes
  • Dentatorubral-Pallidoluysian Atrophy (DRPLA)
  • Desbuquois Dysplasia (DBQD)
  • Diamond Blackfan Anaemia*
  • Diarrheoa 5 with tufting enteropathy congenital
  • Distal Hereditary Motor Neuropathy type IIB
  • Dominant Dystrophic Epidermolysis Bullosa
  • Donohue Syndrome
  • Downs Syndrome
  • Dravet Syndrome
  • Dyskeratosis congenita (Male embryos only)
  • Dystonia 1 Torsion Autosomal Dominant (DYT1)
  • Ectodermal dysplasia (Hypohidrotic)
  • Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC)
  • Ehlers-Danlos Type IV
  • Elastin (ELN)-related Supravalvular Aortic Stenosis
  • Ellis-Van Crevald Syndrome
  • Emery-Dreifuss Muscular Dystrophy (x-linked) (EDMD) (Male embryos only)
  • Epidermolysis bullosa, lethal acantholytic
  • Epilepsy, female restricted, with mental retardation (EFMR)
  • Episodic Ataxia Type 2
  • Facioscapulohumeral Dystrophy (FSH)
  • Factor XIII deficiency
  • Familial Adenomatous polyposis coli (FAP)
  • Familial Dilated Cardiomyopathy caused by mutations in TROPONIN T2 gene (TNNT2)
  • Familial Dysautonomia
  • Familial Hemophagocytic Lymphohistiocytosis (FHL)
  • Familial Hemophagocytic Lymphohistiocytosis 5
  • Familial Hypertrophic Cardiomyopathy 4 (CMH4)
  • Familial Hypertrophic Cardiomyopathy type 1, 3, 7 and 10
  • Familial Paranganglioma Syndrome (PGL1)
  • Fanconis Anaemia A*
  • Fanconis Anaemia C*
  • Finnish Nephrotic Syndrome
  • Focal Dermal Hypoplasia
  • Fragile X Syndrome (FRAX)
  • Fraser Syndrome
  • FRAXE
  • Fried Syndrome
  • Frontometaphyseal Dysplasia
  • Frontotemporal Dementia
  • Frontotemporal Dementia with Parkinsonism
  • Galactosialidosis (early infantile and adult/ juvenile types)
  • Gangliosidosis (GM1)
  • Gaucher Disease Type II
  • Gaucher Disease Type III
  • Glutaric Acidemia (aciduria)
  • Glycogen Storage Disease II (Pompe Disease (early onset))
  • Glycogen Storage Disease Type Ia
  • Gonadal mosaicism
  • Gorlin Syndrome
  • Greig Cephalopolysyndactyly
  • Haemoglobin SC disease
  • Haemophilia A
  • Haemophilia B
  • Hereditary diffuse gastric cancer
  • Hereditary Haemorrhagic Telangiectasia (HTT) or Rendu-Osler-Weber Syndrome
  • Hereditary Multiple Exostoses Type II
  • Hereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (for all subtypes)
  • Holt Oram Syndrome
  • Homocystinuria
  • Homozygous familial hypercholesterolaemia
  • Huntington Disease (Huntington Chorea)
  • Hydrocephalus
  • Hydroxyisobuyryl CoA Hydrolase Deficiency
  • Hyper IgM Syndrome - Hypogammaglobulinaemia*
  • Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant
  • Hyperphosphatasia with Mental Retardation Syndrome 4 (HPMRS4)
  • Hypochondroplasia
  • Hypophosphatasia (Infantile/perinatal lethal)
  • Hypophosphatemic Rickets (x-linked dominant) (Xlh)
  • Hypospadias (severe)
  • Ichthyosis (Harlequin)
  • Ichthyosis (x-linked)
  • Ichthyosis with confetti
  • Idiopathic Arterial Calcification of Infancy
  • Incontinentia Pigmenti (IP)
  • Infantile Neuroaxonal Dystrophy 1
  • Inflammatory Bowel Disease, Early-onset (IBD28)
  • IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy, X-Linked)
  • Juvenile Polyposis Syndrome
  • Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS)
  • Krabbe Disease
  • L–2-Hydroxyglutaric aciduria
  • Leber Congenital Amaurosis (LCA)
  • Leber's Hereditary Optic Neuropathy (LHON) / Lebers Optic atrophy
  • Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy)
  • Leigh's (subacute necrotising encephalopathy of childhood)
  • Lenz Syndrome
  • Lesch Nyan Syndrome
  • Lethal Multiple Pterygium Syndrome (LMPS)
  • Leukocyte Adhesion Deficiency (Type I)*
  • Leukoencephalopathy with Vanishing White Matter
  • Lewy body dementia
  • Li-Fraumeni Syndrome
  • Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
  • Long QT Syndrome Types 1, 2, 3, 5 & 6
  • Lowe Oculocerebrorenal Syndrome
  • Lymphoproliferative Syndrome
  • Macular Dystrophy (childhood onset - variant of Retinitis pigmentosa)
  • Macular Dystrophy Retinal 2
  • Malignant Infantile Osteopetrosis
  • Maple Syrup Urine Disorder (MSUD)
  • Marfan Syndrome
  • Meckel-Gruber Syndrome Types 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 and 11
  • Medium-chain acyl-Co A dehydrogenase
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency
  • MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes)
  • Melnick Needles Syndrome
  • Menkes Syndrome
  • Metachromatic Leukodystrophy
  • Metaphyseal Dysplasia without Hypotrichosis
  • Methylmalonic Aciduria and Homocystinuria
  • Micro Syndrome (WARBM)
  • Microcephaly with or without chorioretinopathy, lymphoedema or mental retardation
  • Mitochodrial Trifunctional Protein Deficiency
  • Mitochondrial DNA Depletion Syndrome 2 (myopathic type)
  • Mucolipidosis type II
  • Mucopolysaccharidosis III (MPS-III) Type B
  • Mucopolysaccharidosis III (MPS-III) Type C
  • Mucopolysaccharidosis III (MPS-III) Type D
  • mucopolysaccharidosis IVA
  • Mucopolysaccharidosis Type I (MPS I)
  • Mucopolysaccharidosis Type II (Hunter Syndrome)
  • Mucopolysaccharidosis Type III A (Sanfilippo syndrome A)
  • Mucopolysaccharidosis Type VI (MPS VI) (Maroteaux-Lamy Syndrome)
  • Muenke Syndrome
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric aciduria type II)
  • Multiple Endocrine Neoplasia Type 2A (MEN 2A)
  • Multiple Endocrine Neoplasia type 2B (MEN 2B)
  • Multiple Endocrine Neoplasia Type I
  • Multiple Epiphyseal Dysplasia Type 5 (MED5)
  • Multiple Exostoses
  • Multiple Lentigines Syndrome (LEOPARD Syndrome)
  • Multiple Pterygium Syndrome Lethal Form (LMPS)
  • Muscle-Eye-Brain Disease
  • Muscular Dystrophy (Beckers)
  • Muscular Dystrophy (Duchenne)
  • Muscular Dystrophy (Oculopharangeal)
  • Muscular dystrophy, Limb-Girdle (LGMD) Type 1B
  • Muscular Dystrophy-dystroglycanopathy Type A5
  • Myoclonic Epilepsy and Ragged Red Fibres (MERRF)
  • Myotonic Dystrophy
  • Myotubular myopathy
  • Nail-Patella Syndrome
  • Nance-Horan Syndrome
  • Nance-Horan Syndrome
  • Nephrogenic Diabetes Insipidus (NDI)
  • Neurofibromatosis type 1
  • Neurofibromatosis Type 2
  • Neurogenic muscle weakness, Ataxia, Retinitis Pigmentosa (NARP)
  • Niemann Pick Disease Type A
  • Niemann Pick Disease Type C
  • Non-Herlitz Junctional Epidermolysis Bullosa
  • Non-Ketotic Hyperglycinaemia (NKH)/ Glycine Encephalopathy (GCE)
  • Noonan Syndrome
  • Norrie Disease
  • Oculocutaneous Albinism Type 1A
  • Oculocutaneous Albinism Type 1B
  • Omenn Syndrome
  • Optic Atrophy 1
  • Ornithine carbamoyltransferase Deficiency (OTC)
  • Ornithine transcarbamylase deficiency (OTD)
  • Osteogenesis Imperfecta type 1A
  • Osteogenesis Imperfecta Type II
  • Osteogenesis Imperfecta Type III
  • Osteogenesis Imperfecta type IV, type V, type VI
  • Osteogenesis Imperfecta Type VIII
  • Osteogenesis Imperfecta Type1 (OI1)
  • Osteopetrosis with Renal Tubular Acidosis (OPTB3)
  • Osteopetrosis, Autosomal Recessive 5 (OPTB5) and Osteopetrosis, Infantile Malignant 3
  • Ostheopathia Striata with Cranial Sclerosis (OSCS)
  • Otopalatodigital syndrome Type 2
  • Otopalatodigital type 1
  • Pachyonychia Congenita Type 1
  • Paragangliomas 4 (plg 4)
  • Paragangliomas 4 (plg 4)
  • Parkinson’s disease 1
  • Parkinson’s disease 4
  • Partial Lipodystrophy, Familial Type 2
  • Pelizaeus Merzbacher Disease
  • Pendred Syndrome
  • Peroxisome Biogenesis Disorders (PBD) (Zellweger Syndrome Spectrum (ZSS))
  • Phenylketonuria (PKU)
  • Plakophilin 1 (PKP1) associated ectodermal dysplasia syndrome
  • Polycystic kidney disease
  • Pontocerebellar Hypoplasia type 1a, type 2a, type 2b, type 2c, type 2d, type 3, type 4, type 6
  • Pontocerebellar Hypoplasia type 1B (PCH1B)
  • Popliteal Pterigum Syndrome
  • Prader Willi Syndrome
  • Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1)
  • Propionic Acidemia
  • Pseudoachondroplasia
  • Pseudohypoparathyroidism (PHP1a)
  • Pyrodoxine-dependent seizures
  • Pyruvate dehydrogenase E1-alpha deficiency X-linked
  • Pyruvate Dehydrogenase E1-beta Deficiency
  • Recessive Dystrophic Epidermolysis Bullosa* (Halleau-Siemens & Herlitz junctional)
  • Recurrent Digynic Triploidy
  • Recurrent hydatitiform mole (HYDM1)
  • Renal Coloboma Syndrome
  • Renal Cysts and Diabetes (RCAD)
  • Retinitis Pigmentosa (autosomal dominant)
  • Retinitis Pigmentosa (RP3) (x-linked)
  • Retinitis Pigmentosa (x-linked)
  • Retinitis Pigmentosa Type 11 (RP11)
  • Retinitis Pigmentosa type 7
  • Retinoblastoma
  • Retinoschisis (Juvenile)
  • Rett Syndrome (RTT) and Neonatal Encephalopathy
  • Rhesus disease/ Haemolytic Disease of the Newborn (HDN)
  • Rigid spine muscular dystrophy
  • Rothmund-Thomson Syndrome (RTS)
  • Saethre-Chotzen Syndrome (SCS)
  • Sandhoff Disease
  • Sanjad Sakati Syndrome (SLSN6)
  • Senior Loken Syndrome 6
  • Sensorineural deafness - autosomal recessive non-syndromic
  • Severe Combined Immune Deficiency (x-linked)
  • Severe Combined Immunodeficiency – autosomal recessive
  • Severe Combined Immunodeficiency (SCID)
  • Severe Combined Immunodeficiency (SCID) (Adenosine Deaminase (ADA) deficient)
  • Sickle Cell Anaemia*
  • Simpson Golabi Behmel Syndrome Type 1
  • Smith Lemli Opitz Syndrome (SLO)
  • Sotos Syndrome
  • Spastic paraplegia
  • Spinal and Bulbar Muscular Atrophy X-linked (Kennedy disease) (in affected males embryos)
  • Spinal Muscular Atrophy (SMA1)
  • Spinal Muscular Atrophy and Respiratory Distress (SMARD1)
  • Spinal muscular atrophy type 1
  • Spinal muscular atrophy type 2
  • Spinocerebellar Ataxia 7 (SCA 7)
  • Spinocerebellar Ataxia Type 1 (SCA1)
  • Spinocerebellar Ataxia Type 2 (SCA2)
  • Spinocerebellar Ataxia Type 3 (SCA 3) (Machado Joseph Disease)
  • Spinocerebellar Ataxia Type 6 (SCA6)
  • Spondyloepiphyseal Dysplasia Congenita
  • Stickler Syndrome Type I, II, III and IV
  • Stuve-Wiedemann Syndrome (Schwartz-Jampel Type 2 syndrome)
  • Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)
  • Surfactant Metabolism Dysfunction, Pulmonary 1 (SMDP1)
  • Surfactant Metabolism Dysfunction, Pulmonary, type 2
  • Tay Sachs Disease (infantile onset)
  • Townes-Brocks Syndrome
  • Treacher Collins Syndrome
  • Treacher Collins Syndrome Type 2 (TCS2)
  • Trichothiodystrophy
  • Tuberous Sclerosis (TSC1 and TSC2)
  • Turner's syndrome (Mosaic)
  • Tyrosinaemia Type 1
  • Ullrich Congenital Muscular Dystrophy (UCMD)
  • Usher syndrome type 1 (including subtypes 1B, 1C, 1D, 1F, 1G, 1J)
  • Usher syndrome type 2 (including subtypes 2A, 2C and 2D)
  • Von Hippel Lindau (VHL) Syndrome
  • Waardenburg Syndrome Type I
  • Waardenburg Syndrome Type IIa
  • Waardenburg Syndrome Type IId
  • Waardenburg Syndrome Type IIe
  • Waardenburg Syndrome Type III
  • Waardenburg Syndrome Type Iva
  • Waardenburg Syndrome Type IVb
  • Waardenburg Syndrome Type IVc
  • Walker Warburg Syndrome (Muscular dystrophy dystroglycanopathy)
  • Wiscott-Aldrich Syndrome*
  • Wolcott-Rallison Syndrome
  • Wolman's Disease (Acid Lipase Deficiency)
  • X Linked Periventricular Heterotopia
  • X-linked lissencephaly
  • X-Linked Lymphoproliferative Disease Type 2 (XLP2) (Male Embryos Only)
  • X-Linked Opitz G / BBB Syndrome
  • X-Linked Thrombocytopenia (XLT)
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