PGT-M disorder list

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    PGT-M disorder list

    3-methylglutaconic aciduria type 1
    6-deficiency pyruvyl-tetrahydropterin synthase
    ABO isoimmunization
    Achondroplasia
    Achromatopsia
    Aciduria Argininosuccinic
    Acyl-CoA dehydrogenase deficiency
    Adenosine deaminase deficiency
    Adrenoleukodystrophy
    Adult syndrome
    Aicardi Goutieres Syndrome
    Aicardi-Goutières syndrome
    Alagille syndrome
    Albright syndrome
    Alpha thalassemia
    Alpha-1 antitrypsin deficiency
    Alpha-thalassemia syndrome X-linked intellectual disability
    Alport syndrome
    Alström syndrome
    Amyotrophic Lateral Sclerosis
    Amyotrophic lateral sclerosis familiar
    Androgen insensitivity syndrome
    Aniridia
    APECED syndrome
    Apparent mineralocorticoid excess
    Arterial tortuosity syndrome
    Ataxia-oculomotor apraxia type 1
    ATIC deficiency
    Autism spectrum disorder
    Autosomal dominant limb-girdle muscular dystrophy type 1B
    Autosomal recessive limb-girdle muscular dystrophy
    Autosomal recessive polycystic kidney disease
    Band like calcification polymicrogyria
    Bardet-Biedl syndrome
    Bartter syndrome
    Best Macular dystrophy
    Beta Thalassemia
    Biotinidase deficiency
    Biotin-responsive basal ganglia disease
    Blackfan-Diamond disease
    Blepharophimosis-epicanthus inversus-ptosis syndrome
    Bruck syndrome
    Brugada syndrome
    Bruton type agammaglobulinemia
    CADASIL
    Canavan Disease
    Carbamoyl-phosphate synthase deficiency
    Carbonic anhydrase deficiency type 2
    Cartilage-hair hypoplasia
    Catecholaminergic polymorphic ventricular tachycar
    Caveolinopathy
    CDK9 SYNDROME
    Central core myopathy
    Cerebellar hypoplasia
    Charcot Marie Tooh 2A
    Charcot Marie Tooh X-linked
    Charcot Marie Tooth 1A
    Charcot Marie Tooth 1B
    Charcot Marie Tooth 2K
    Charcot Marie Tooth 4C
    Charcot Marie Tooth 4D
    Chondrodysplasia punctata
    Chondrodysplasia punctata type 1 Rhizomelic
    Chondrodysplasia type Grebe
    Choroideremia
    Chronic granulomatosis
    Citrullinemia
    Cleidocranial dysostosis
    Clouston syndrome
    COFS syndrome
    Cohen syndrome
    Combined oxidative phosphorylation deficiency
    Congenital adrenal hyperplasia
    Congenital cataracts
    Congenital cerebellar ataxia
    congenital heart disease
    Congenital ichthyosis
    Congenital lamellar ichthyosis
    Congenital muscular dystrophy
    Congenital muscular dystrophy by merosin Deficit
    Congenital muscular dystrophy megaconial
    Congenital myasthenic syndromes with glycosylation defect
    Congenital nephrotic syndrome
    Congenital tufting enteropathy
    Corneal dystrophy
    Cornelia de Lange syndrome
    Creutzfeldt-Jakob disease
    Cystic fibrosis
    Cystoid macular dystrophy
    Cytomegalic congenital adrenal hypoplasia
    D,L-2-hydroxyglutaric aciduria
    Darier disease
    Deficiency of glucose 6-phosphate dehydrogenase
    Dehydrated hereditary stomatocytosis
    Diastrophic dysplasia
    Diffuse gastric cancer
    Dihydropyrimidine dehydrogenase deficiency
    Dihydropyrimidine dehydrogenase deficiency
    Dominant polycystic kidney disease
    Duchenne muscular dystrophy / Becker
    Duffy isoinmunization
    Dyskeratosis congenita, X-linked
    Dystrophic epidermolysis bullosa
    Ectodermic dysplasia
    EIF2B3-related leukodstrophy
    Ellis-van Creveld syndrome
    Emery-Dreifuss muscular dystrophy
    Epileptic encephalopathy
    Fabry disease
    Facio-scapulo-humeral dystrophy
    Factor XIII deficiency
    Familial adenomatous polyposis
    Familial amyloidotic polyneuropathy
    Familial dysautonomia
    Familial hyperaldosteronism
    Familial hypertrophic cardiomyopathy
    Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
    Familial isolated arrhythmogenic right ventricular dysplasia
    Familial isolated dilated cardiomyopathy
    Familial mediterranian fever
    Familial spastic paraplegia
    Family thoracic aortic aneurysm
    Fanconi Anemia
    Fatal familial insomnia
    Fatal mutiple mitochondrial dysfunctions syndrome
    FGFR1 related disorder
    Focal dermal hypoplasia
    Fragile X syndrome
    Fraser syndrome
    Galactosemy
    Gangliosidosis
    Gaucher's Disease
    Geleophysic dysplasia
    Gerstmann-Straussler-Scheinker syndrome
    Glanzmann's thrombasthenia
    Glycine encephalopathy
    Glycogen Storage Disease
    Glycogenosis due to glucose-6-phosphatase deficiency
    GNE-related disorders
    Gorlin syndrome
    GSS syndrome
    Harlequin type ichthyosis congenital
    Hemolytic anemia due to red cell pyruvate kinase deficiency
    Hemophagocytic lymphohistiocytosis
    Hemophilia A
    Hemophilia B
    Hereditary angioedema
    Hereditary breast cancer
    Hereditary chronic pancreatitis
    Hereditary fructose intolerance
    Hereditary hearing loss
    Hereditary hemorrhagic telangiectasia
    Hereditary multiple exostosis
    Hereditary Parkinson
    Hereditary spherocytosis
    Hermansky-Pudlak syndrome
    Hipomielinizante leukodystrophy
    HLA typing
    Holoprosencephaly
    Homocystinuria
    Hunters Syndrome
    Huntington
    Hurler Syndrome
    Hyper IgD syndrome
    Hyperinsulinism
    Hyperkalemic periodic paralysis
    Hypochondroplasia
    Hypohidrotic ectodermal dysplasia
    Hypoparathyroidism-retardation-dysmorphism syndrom
    Hypophosphatemic rickets X-linked
    Idiopathic dystonia
    Incontinentia pigmenti
    Infantile liver failure syndrome 1
    intestinal atresia
    IPEX syndrome
    Isolated sulfite oxidase deficiency
    isovaleric acidemia
    Jeune asphyxiating thoracic dystrophy
    Joubert syndrome
    Junctional epidermolysis bullosa
    Kell isoimmunization
    Kennedy disease
    Krabbe disease
    L1 syndrome
    L-aromatic amino acid decarboxylase deficiency
    Larsen syndrome
    LCHADD
    Leber congenital amaurosis
    Leigh disease with leukodystrophy
    Leigh syndrome
    Leigh-like syndrome
    Leopard syndrome
    Leprechaunism
    Leri Weill Dyschondrosteosis
    Leucodystrophy
    leukoencephalopathy with vanishing white matter
    Li-Fraumeni syndrome
    Limb girdle muscular dystrophy
    Lipofuscinosis
    Lissencephaly type 1 (X-chromosome)
    Long QT syndrome
    Lowe syndrome
    Lymphedema-Distichiasis
    Lynch syndrome
    Macular dystrophy
    Marfan syndrome
    McArdle disease
    Menkes disease
    Mental Retardation
    Mental retardation syndrome - strabismus
    Merkel-Gruber syndrome
    Metachromatic leucodystrophy
    Methyl malonic acidemia
    Microcephaly
    Microphthalmia
    Microvillus inclusion disease
    Mitochondrial complex IV deficiency
    Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
    Mitochrondrial DNA depletion syndrome
    Molybdenum cofactor deficiency
    Morbus-Crouzon syndrome
    Mucin-1 kidney disease
    Mucolipidosis II
    Mucopolysaccharidosis I
    Mucopolysaccharidosis II
    Mucopolysaccharidosis IIIA
    Mucopolysaccharidosis IV-A
    Muenke syndrome
    Multiple Endocrine Neoplasia 1
    Multiple Endocrine Neoplasia 2A
    Multiple Endocrine Neoplasia 2B
    Multiple intestinal atresia
    Myoclonic dystonia
    N-acetyl-alpha-D-galactosaminidase deficiency
    Nail-patella syndrome
    Nanoftalmia
    Nemaline myopathy
    Neurofibromatosis 1
    Neurofibromatosis 2
    Niemann Pick A/B syndrome
    Niemann Pick C syndrome
    Nonketotic hyperglycinemia
    Nonspecific X-linked intellectual deficit
    Noonan Syndrome
    Norrie disease
    nuclear cataract
    Oculocutaneous albinism
    Oculo-dental-digital dysplasia
    Ohtahara Syndrome
    Ornithine transcarbamylase deficiency
    Osteochondrodysplasia
    Osteogenesis imperfecta
    Osteopetrosis
    Oxoglutaricaciduria
    Papillo-renal syndrome
    Paraganglioma/Pheochromocytoma
    Partial STAT1 deficiency
    Pelizaeus Merzbacher
    Pelizaeus Merzbacher-like
    Peraganglioma / pheochromocytoma
    Periventricular Heterotopia
    Peters plus syndrome
    Peutz Jeghers syndrome
    Pfeiffer syndrome
    Phenylketonuria
    Pompe disease
    Pressure sensitive neuropathy
    Primary ciliary dyskinesia
    Progressive external ophthalmoplegia
    Progressive familial intrahepatic cholestasis
    Propionic acidemia
    Proximal myopathy with extrapyramidal signs
    Pseudoachondroplasia
    Pseudohermaphroditism
    Pyridoxal phosphate-responsive seizures
    Pyruvate carboxylase deficiency
    Rendu-Osler-Weber disease
    Retinitis Pigmentosa
    Retinoblastoma
    RhCE isoimmunization
    RhD isoimmunization
    Sandhoff disease
    Schaaf-Yang syndrome
    Schwannomatosis
    Sensory ataxic neuropathy - dysarthria - ophthalmo
    Severe combined immunodeficiency T-B + X-linked
    Shwachman-Diamond syndrome
    Sickle cell anemia
    Simple epidermolysis bullosa
    Simpson-Golabi-Behmel syndrome
    Smith Lemli Opitz syndrome
    Spinal Muscular Atrophy
    Spinocerebellar ataxia
    spinocerebellar ataxia type 36
    Spondylometaphyseal dysplasia
    Stargardt's Disease
    Steinert myotonic dystrophy
    Steroid resistant nephrotic syndrome
    Stickler syndrome type 1
    Stuve-Wiedemann syndrome
    Synaptic congenital myasthenic syndromes
    Syndrome type 2 lethal congenital contracture
    Syndrome Van der Knapp
    Tay Sachs
    Temtamy's syndrome
    Thymine-uraciluria
    Tibial muscular dystrophy
    Treacher Collins syndrome
    Tuberous sclerosis
    Tyrosinemia type I
    Urine Disease smelling maple syrup
    Usher syndrome
    Van den Ende-Gupta syndrome
    Van der Woude syndrome
    Variable PenetranceHypertrophic Cardiomyopthy
    Vitelliform macular dystrophy
    Von Hippel Lindau syndrome
    Walker-Warburg syndrome
    Warburg micro syndrome
    Wiskott-Aldrich syndrome
    Wolman syndrome
    Woodhouse-Sakati syndrome
    X-linked adrenoleukodystrophy
    X-linked Agammaglobulinemia
    Zellweger syndrome

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