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GTR Home > Laboratories > GENETIX Centro de Investigación en Genética Humana y Reproductiva

GENETIX Centro de Investigación en Genética Humana y Reproductiva

GTR Lab ID: 320416, Last updated:2021-02-02
Annual Review past due read more

Personnel

  • Director: Claudia Serrano, MD, MSc, Lab Director
    Phone: 571-3120200
    Fax: 571-3120200
  • Lorena Sanchez Pirajan, MSc, Staff
    Phone: 571-3120200
    Fax: 571-3120200
    Email: biomolecular.genetix@gmail.com
  • Suleima Carpeta Sanchez, MSc, Staff
    Phone: 571-3120200
    Fax: 571-3120200
    Email: genetixlbrtr@gmail.com

Conditions and tests

  • Achondroplasia2 tests
  • Acquired polycythemia vera1 test
  • Acute lymphoid leukemia1 test
  • Advanced maternal age gravida1 test
  • Angelman syndrome2 tests
  • Anomaly of sex chromosome1 test
  • Anosmia1 test
  • Ataxia1 test
  • Atelosteogenesis type I1 test
  • Atelosteogenesis type III1 test
  • Atrophia bulborum hereditaria1 test
  • Atrophy1 test
  • Autosomal chromosomal disorder1 test
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal recessive DOPA responsive dystonia1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
  • Azoospermia1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Batten-Turner congenital myopathy1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
  • beta Thalassemia1 test
  • Boomerang dysplasia1 test
  • Branchiooculofacial syndrome1 test
  • Breast adenocarcinoma1 test
  • Breast cancer, early-onset1 test
  • Breast cancer, familial male1 test
  • Breast cancer, susceptibility to1 test
  • Breast neoplasm1 test
  • Breast-ovarian cancer, familial, susceptibility to, 12 tests
  • Breast-ovarian cancer, familial, susceptibility to, 22 tests
  • Breast-ovarian cancer, familial, susceptibility to, 32 tests
  • Breast-ovarian cancer, familial, susceptibility to, 42 tests
  • Brugada syndrome 11 test
  • Budd-Chiari syndrome1 test
  • Camptomelic dysplasia1 test
  • Carcinoma of colon1 test
  • Cat eye syndrome1 test
  • CBL-related disorder1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Charcot-Marie-Tooth disease axonal type 2K1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1 test
  • Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
  • CHARGE association1 test
  • Choreoathetosis1 test
  • Chromosome 22q11.2 microduplication syndrome1 test
  • Chronic myelogenous leukemia, BCR-ABL1 positive1 test
  • Chronic obstructive pulmonary disease2 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic homocystinuria1 test
  • Cognitive impairment1 test
  • Complete trisomy 21 syndrome1 test
  • Congenital adrenal hyperplasia2 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
  • Congenital chromosomal disease1 test
  • Congenital heart disease1 test
  • Congenital muscular dystrophy due to LMNA mutation1 test
  • Congenital myasthenic syndrome 161 test
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital stationary night blindness1 test
  • Cowden syndrome 12 tests
  • Craniofacial-deafness-hand syndrome1 test
  • Crouzon syndrome-acanthosis nigricans syndrome1 test
  • Cystic disease of lung2 tests
  • Cystic fibrosis3 tests
  • Cystic fibrosis-gastritis-megaloblastic anemia syndrome3 tests
  • Dejerine-Sottas disease1 test
  • Delayed puberty2 tests
  • Dementia1 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Desmoid disease, hereditary1 test
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 91 test
  • Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing1 test
  • Diabetes mellitus, noninsulin-dependent, 21 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1LL1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Disorder of fatty acid metabolism1 test
  • Distal monosomy 10p1 test
  • Dominant beta-thalassemia1 test
  • Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
  • Elevated sweat electrolytes2 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
  • Ethylmalonic encephalopathy1 test
  • Exudative vitreoretinopathy 2, X-linked1 test
  • Fabry disease1 test
  • Fabry disease, cardiac variant1 test
  • Familial adenomatous polyposis 11 test
  • Familial partial lipodystrophy, Dunnigan type1 test
  • Febrile seizures, familial, 3a1 test
  • Finnish congenital nephrotic syndrome1 test
  • Fragile X syndrome1 test
  • Friedreich ataxia 11 test
  • Friedreich ataxia 21 test
  • Gait ataxia2 tests
  • Gardner syndrome1 test
  • Gastrointestinal stromal tumor1 test
  • Gestational diabetes1 test
  • Global developmental delay3 tests
  • Hartsfield-Bixler-Demyer syndrome1 test
  • Hb SS disease2 tests
  • Heart block, nonprogressive1 test
  • Heart-hand syndrome, Slovenian type1 test
  • Hemochromatosis type 11 test
  • Hepatic adenomas, familial1 test
  • Hereditary breast ovarian cancer syndrome4 tests
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary spastic paraplegia 41 test
  • Hereditary spastic paraplegia 71 test
  • Huntington disease1 test
  • Hurler syndrome1 test
  • Hutchinson-Gilford progeria syndrome, childhood-onset1 test
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperkalemic periodic paralysis1 test
  • Hypoalphalipoproteinemia, primary, 11 test
  • Hypocalcemia1 test
  • Hypochondroplasia2 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 3 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 6 with or without anosmia1 test
  • Hypokalemic periodic paralysis, type 21 test
  • Hypophosphatemic rickets, autosomal recessive, 11 test
  • Hyposmia1 test
  • Hypotonia1 test
  • Idiopathic hypereosinophilic syndrome1 test
  • Infertility due to oligospermia1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Jackson-Weiss syndrome1 test
  • Kugelberg-Welander disease1 test
  • Larsen syndrome1 test
  • Learning difficulties1 test
  • Lesch-Nyhan syndrome1 test
  • Lethal tight skin contracture syndrome1 test
  • Lissencephaly1 test
  • Lissencephaly due to LIS1 mutation1 test
  • Long QT syndrome 31 test
  • Macrocephaly-autism syndrome1 test
  • Mandibuloacral dysplasia1 test
  • Marinesco-Sjögren syndrome1 test
  • Maternal care for suspected chromosomal abnormality in fetus1 test
  • Maturity-onset diabetes of the young type 11 test
  • Maturity-onset diabetes of the young type 21 test
  • Maturity-onset diabetes of the young type 31 test
  • Meconium ileus2 tests
  • Medullary thyroid carcinoma1 test
  • Metachondromatosis1 test
  • Miller Dieker syndrome2 tests
  • Miscarriage1 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
  • Morbid obesity1 test
  • Mucopolysaccharidosis type 11 test
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-III-D1 test
  • Muenke syndrome1 test
  • Multiple congenital exostosis1 test
  • Multiple endocrine neoplasia, type 21 test
  • Multiple epiphyseal dysplasia type 11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
  • Myelofibrosis1 test
  • Neoplasm of ovary1 test
  • Neoplasm of stomach1 test
  • Nephropathic cystinosis1 test
  • Nephrotic syndrome, type 22 tests
  • Non-ketotic hyperglycinemia1 test
  • Nonpapillary renal cell carcinoma1 test
  • Noonan syndrome1 test
  • Noonan syndrome 11 test
  • Noonan syndrome with multiple lentigines1 test
  • Obesity1 test
  • Obsessive-compulsive disorder1 test
  • Oculocutaneous albinism type 1B1 test
  • Osteogenesis imperfecta type I1 test
  • Osteoglophonic dysplasia1 test
  • Ovarian cancer, susceptibility to, 12 tests
  • Palatal abnormalities1 test
  • Pancreatic insufficiency, combined exocrine1 test
  • Pancreatic insufficiency-anemia-hyperostosis syndrome3 tests
  • Paramyotonia congenita of Von Eulenburg1 test
  • Paroxysmal bursts of laughter1 test
  • Permanent neonatal diabetes mellitus1 test
  • Pfeiffer syndrome1 test
  • Prader-Willi syndrome1 test
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Proteus syndrome2 tests
  • Proteus-like syndrome1 test
  • Proximal muscle weakness1 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • PTEN hamartoma tumor syndrome1 test
  • Pulmonary disease, chronic obstructive, rate of decline of lung function in2 tests
  • Retinal dystrophy1 test
  • Retinitis pigmentosa1 test
  • Retinitis punctata albescens1 test
  • Rett syndrome1 test
  • Sanfilippo syndrome1 test
  • Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • SHOX-related short stature1 test
  • Sick sinus syndrome 11 test
  • Silver-Russell syndrome 11 test
  • Speech delay1 test
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Subcortical band heterotopia1 test
  • Tangier disease1 test
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test
  • Thrombocythemia 31 test
  • Thrombophilia due to activated protein C resistance1 test
  • Tietz syndrome1 test
  • Trigonocephaly 11 test
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Vater association with macrocephaly and ventriculomegaly1 test
  • Velocardiofacial syndrome1 test
  • Virilization2 tests
  • Von Hippel-Lindau syndrome1 test
  • von Willebrand disease type 11 test
  • Von Willebrand disease type 2A1 test
  • Von Willebrand disease type 2B1 test
  • von Willebrand disease type 2M1 test
  • von Willebrand disease type 2N1 test
  • von Willebrand disease type 31 test
  • von Willebrand disorder1 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 31 test
  • Werdnig-Hoffmann disease1 test
  • West syndrome1 test
  • Williams syndrome1 test
  • X linked condition1 test
  • X-linked Alport syndrome1 test
  • X-linked severe combined immunodeficiency1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Balanced Chromosome Rearrangement Studies
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Carrier testing
  • DNA Banking
  • Genetic counseling
  • Mutation Confirmation
  • Preimplantation Genetic Diagnosis (PGD)
  • Result interpretation
  • Uniparental Disomy (UPD) Testing

List of certifications/licenses

Certifications

  • Habilitación de Secretaria de Salud de Bogota, Number: 1100117792-01, Expiration date: 2013-10-04

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