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Lista de Enfermedades Monogénicas

Nombres de Enfermedades Monogénicas en inglés:

  • Adenosine Aminohydrolase (ADA) Deficiency
  • Adrenoleukodystrophy (X-Linked ALD)
  • Alpha 1 Antitrypsin Deficiency
  • Alport Syndrome
  • Aneuploidies by STR Genotyping
  • Angioedema, Hereditary
  • Ataxia-Telangiectasia (AT)
  • Basal Cell Nevus Syndrome (Gorlin Syndrome)
  • Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)
  • Blood Group – Kell Cellano System
  • Brain Tumor, Posterior Fossa of Infancy, Familial
  • Canavan Disease
  • Ceriod Lipofuscinosis, Neuronal 2, LAE Infantile, CLN2 (Batten Disease)
  • Charcot-Marie-Tooth Disease Type 1A (CMT1A)
  • Charcot-Marie-Tooth Disease Type 1B (CMT1B)
  • Charcot-Marie-Tooth Disease, Axonal, Type 2E
  • Charcot-Marie-Tooth Disease, Type X-Linked, 1 (CMTX1)
  • Choroideremia (CHM)
  • Citrullinemia
  • Colon Cancer, Hereditary Nonpolyposis, Type1
  • Congenital Adrenal Hyperplasia (CAH)
  • Connexin 26(Neurosensory Deafness)
  • Crouzon Syndrome (Craniofacial Dysostosis)
  • Currarino Triad
  • Cystic Fibrosis (CF)
  • Cystinosin (CTNS)
  • Darier-White Disease (DAR)
  • Diamond-Blackfan Anemia (and HLA)
  • Dystonia Torsion (DYT1)
  • Early-Onset Familial Alzheimer Disease
  • Ectodermal Dysplasia 1, Anhidrotic (ED1)
  • Ectodermal Dysplasia, Hypohidrotic (EDAR)
  • Emery-Dreifuss Muscular Dystropy
  • Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive (EDMD3)
  • Epidermolysis Bullosa Dystrophica, Pasini
  • Epiphyseal Dysplasia, Multiple, 1 (EDM1)
  • Exostoses, Multiple, Type 1
  • Fabry Disease
  • Facioscapulohumeral Muscular Dystrophy
  • Familial Adenomatosis Polyposis
  • Familial Amyloid Polyneuropathy
  • Familial Dysautonomia (Riley-Day Syndrome, DYS)
  • Fanconi Anemia A (and HLA)
  • Fanconi Anemia C (and HLA)
  • Fanconi Anemia F (and HLA)
  • Fanconi Anemia J (and HLA)
  • Fragile-X A Syndromes (FMR1)
  • Galactosemia
  • Gaucher Disease, Type 1
  • Glycogen Storage Disease, Type VI
  • Hemophilia A
  • Hemophilia B
  • HLA Matching Genotyping
  • Holoprosencephaly
  • Hoyeraal-Hreidarsson Syndrome (HHS)
  • Hunter Syndrome (Mucopolysaccharidosis II)
  • Huntington Chorea
  • Hurler Syndrome (Mucopolysaccharidosis IH)
  • Hydrocephalus, X-Linked (L1CAM)
  • Hypophosphatasia (Infantile)
  • Immunodeficiency with Hyper-IgM, Type 1
  • Incontinentia Pigmenti (IP)
  • Krabbe Disease
  • Leukoencephalopathy with Vanishing White Matter
  • Li-Fraumeni Syndrome (Mutations in p53 Gene)
  • Long-Chain Hydroxyacyl-CoA Dehydrogenase (LCHAD)
  • Marfan Syndrome
  • Medium-Chain Hydroxylacyl-CoA Dehydrogenase (MCAD)
  • 5,10-@Methylenetetrahydrofolate Reductase (MTHFR)
  • Muscular Dystrophy, Duchenne Type (DMD)
  • Muscular Dystrophy, Becker Type (BMD)
  • Myotonic Dystrophy (DM1)
  • Myotubular Myopathy 1
  • Neurofibromatosis Type 1
  • Neurofibromatosis Type 2
  • Norrie Disease
  • Ocular Albinism, X-Linked
  • Oculocutaneous Albinism Type 1
  • Oculocutaneous Albinism Type 2
  • Omenn Syndrome
  • Optic Atrophy
  • Ornithine Carbamoyltransferase (OTC) Deficiency
  • Osteogenesis Imperfecta
  • Osteopetrosis, Malignant, Autosomal Recessive
  • Pelizaes-Merzbacher Disease
  • Phenylketonuria
  • Polycystic Kidney Disease Autosomal Dominant Type 1
  • Polycystic Kidney Disease Autosomal Dominant Type 2
  • Polycystic Kidney Disease Autosomal Recessive ARPKD
  • Popliteal Pterygium Syndrome
  • Retinitis Pigmentosa
  • Retinoblastoma
  • Rett Syndrome
  • Sandhoff Disease
  • Sickle Cell Anemia
  • Smith-Lemli-Opitz Syndrome
  • Spinal Muscular Atrophy (SMA)
  • Spinocerebellar Ataxia Type 1
  • Spinocerebellar Ataxia Type 2
  • Spinocerebellar Ataxia Type 3, Machado-Joseph Disease (MJD)
  • Spinocerebellar Ataxia Type 6
  • Spinocerebellar Ataxia Type 7
  • Stickler Syndrome
  • Succinic Semialdehyde Dehydrogenase Deficiency
  • Symphalangism
  • Tay-Sachs Disease (TSD)
  • Thalassemia Alpha
  • Thalassemia Beta
  • Treacher Collins Syndrome
  • Tuberous Sclerosis Type 1
  • Tuberous Sclerosis Type 2
  • Von Hippel-Lindau Syndrome (VHL)
  • Wiscott Aldrich Syndrome
  • Zellweger Syndrome

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