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Children's Hospital Colorado Molecular Genetics Laboratory

GTR Lab ID: 1038, Last updated:2017-06-27
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Personnel

Conditions and tests

  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-methylcrotonyl CoA carboxylase 2 deficiency1 test
  • 46,XX sex reversal, type 12 tests
  • 46,XY sex reversal, type 12 tests
  • Achondroplasia3 tests
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Acrocephalosyndactyly type I3 tests
  • Acute myeloid leukemia1 test
  • Age-related macular degeneration 21 test
  • Aicardi Goutieres syndrome 12 tests
  • Aicardi Goutieres syndrome 22 tests
  • Aicardi Goutieres syndrome 32 tests
  • Aicardi Goutieres syndrome 42 tests
  • Aicardi Goutieres syndrome 51 test
  • Androgen resistance syndrome2 tests
  • Angelman syndrome1 test
  • Aniridia 12 tests
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis2 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 101 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 111 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 81 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 91 test
  • Atypical mycobacteriosis, familial, X-linked 21 test
  • Auriculocondylar syndrome1 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12 tests
  • Bannayan-Riley-Ruvalcaba syndrome2 tests
  • Baraitser-Winter syndrome 11 test
  • Baraitser-Winter Syndrome 21 test
  • Bardet-Biedl syndrome1 test
  • Basal ganglia disease, biotin-responsive1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • Bent bone dysplasia syndrome2 tests
  • Biotinidase deficiency2 tests
  • Branchiooculofacial syndrome1 test
  • Branchiootorenal Spectrum Disorders1 test
  • Bronchiectasis with or without elevated sweat chloride 11 test
  • Budd-Chiari syndrome1 test
  • Camptomelic dysplasia1 test
  • Carcinoma of colon2 tests
  • Cerebellar ataxia infantile with progressive external ophthalmoplegia2 tests
  • Charcot-Marie-Tooth disease type 2B12 tests
  • CHARGE association1 test
  • Chilblain lupus 12 tests
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
  • Chronic granulomatous disease, X-linked1 test
  • Ch├ędiak-Higashi syndrome1 test
  • Coloboma of optic disc2 tests
  • Combined malonic and methylmalonic aciduria1 test
  • Cone dystrophy 41 test
  • Cone-rod dystrophy 31 test
  • Congenital bilateral absence of the vas deferens2 tests
  • Congenital defect of folate absorption1 test
  • Congenital muscular dystrophy, LMNA-related2 tests
  • Congenital ocular coloboma2 tests
  • Corpus callosum, partial agenesis of, X-linked1 test
  • Cowden syndrome 12 tests
  • Craniofacial deafness hand syndrome1 test
  • Craniofrontonasal dysplasia1 test
  • Crouzon syndrome2 tests
  • Crouzon syndrome with acanthosis nigricans3 tests
  • Cutaneous malignant melanoma 12 tests
  • Cutis Gyrata syndrome of Beare and Stevenson3 tests
  • Cystic fibrosis2 tests
  • Danon disease1 test
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness2 tests
  • Diffuse mesangial sclerosis2 tests
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
  • Drash syndrome2 tests
  • Duane-radial ray syndrome1 test
  • Early infantile epileptic encephalopathy 21 test
  • Endometrial carcinoma2 tests
  • Factor V deficiency1 test
  • Familial adenomatous polyposis 11 test
  • Familial colorectal cancer1 test
  • Familial multiple polyposis syndrome1 test
  • Familial partial lipodystrophy 22 tests
  • Follicular thyroid carcinoma2 tests
  • Foveal hypoplasia and presenile cataract syndrome2 tests
  • Fragile X syndrome2 tests
  • Fragile X tremor/ataxia syndrome1 test
  • Frasier syndrome2 tests
  • Frontonasal dysplasia 22 tests
  • Gastrointestinal stroma tumor1 test
  • Gillespie syndrome2 tests
  • Glutaric aciduria, type 12 tests
  • Glutaric aciduria, type 26 tests
  • Glutaryl-CoA oxidase deficiency1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
  • Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate2 tests
  • Heart-hand syndrome, Slovenian type2 tests
  • Hereditary hemorrhagic telangiectasia type 21 test
  • Hereditary pancreatitis1 test
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 31 test
  • Holocarboxylase synthetase deficiency2 tests
  • Holt-Oram syndrome2 tests
  • Homocystinuria due to CBS deficiency3 tests
  • Homocystinuria due to MTHFR deficiency1 test
  • Homocystinuria, cblD type, variant 11 test
  • Homocystinuria, pyridoxine-nonresponsive1 test
  • Homocystinuria, pyridoxine-responsive1 test
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
  • Hutchinson-Gilford syndrome2 tests
  • Hypochondroplasia3 tests
  • Intrinsic factor deficiency1 test
  • Irido-corneo-trabecular dysgenesis2 tests
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • IVIC syndrome1 test
  • Jackson-Weiss syndrome4 tests
  • Joubert syndrome 51 test
  • Kallmann syndrome 22 tests
  • Keratitis, hereditary2 tests
  • Klein-Waardenberg's syndrome1 test
  • Lchad deficiency with maternal acute fatty liver of pregnancy2 tests
  • Leber congenital amaurosis 101 test
  • Legius syndrome1 test
  • Lethal tight skin contracture syndrome2 tests
  • Leukoencephalopathy, cystic, without megalencephaly1 test
  • Levy-Hollister syndrome2 tests
  • Limb-girdle muscular dystrophy, type 1B2 tests
  • Macrocephaly/autism syndrome2 tests
  • Malignant tumor of prostate2 tests
  • Malignant tumor of testis1 test
  • Mandibuloacral dysostosis2 tests
  • Maple syrup urine disease1 test
  • Mastocytosis1 test
  • Meacham syndrome2 tests
  • Meckel syndrome type 41 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency3 tests
  • Mesothelioma, malignant2 tests
  • METHYLCOBALAMIN DEFICIENCY, cblG TYPE1 test
  • Methylmalonic acidemia1 test
  • Methylmalonic acidemia with homocystinuria3 tests
  • Methylmalonic acidemia with homocystinuria cblD2 tests
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE3 tests
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE1 test
  • Methylmalonic aciduria cblA type3 tests
  • Methylmalonic aciduria cblB type3 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect1 test
  • Methylmalonyl-CoA epimerase deficiency2 tests
  • Microphthalmia syndromic 31 test
  • Microphthalmia syndromic 51 test
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type2 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
  • Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form1 test
  • Mitochondrial trifunctional protein deficiency2 tests
  • Muenke syndrome4 tests
  • Multiple mitochondrial dysfunctions syndrome 12 tests
  • Multiple mitochondrial dysfunctions syndrome 22 tests
  • Neoplasm of stomach2 tests
  • Non-ketotic hyperglycinemia6 tests
  • Noonan syndrome1 test
  • Noonan syndrome 11 test
  • Noonan syndrome 21 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 61 test
  • Noonan syndrome 71 test
  • Noonan syndrome 81 test
  • Noonan syndrome with multiple lentigines1 test
  • Nystagmus 6, congenital, X-linked1 test
  • Ocular albinism, type I1 test
  • Oculocutaneous albinism type 11 test
  • Oculocutaneous albinism type 1B1 test
  • Oculocutaneous albinism type 31 test
  • Oculocutaneous albinism type 41 test
  • Optic nerve hypoplasia, bilateral2 tests
  • Osler hemorrhagic telangiectasia syndrome1 test
  • Osteoglophonic dysplasia2 tests
  • Parietal foramina 22 tests
  • Partial albinism1 test
  • Pendred's syndrome2 tests
  • Peutz-Jeghers syndrome1 test
  • Pfeiffer syndrome5 tests
  • Premature ovarian failure1 test
  • Progressive sclerosing poliodystrophy2 tests
  • Propionyl-CoA carboxylase deficiency4 tests
  • Pyridoxal 5'-phosphate-dependent epilepsy2 tests
  • Pyridoxine-dependent epilepsy2 tests
  • Pyruvate dehydrogenase complex deficiency1 test
  • Renal carnitine transport defect1 test
  • Retinitis pigmentosa 191 test
  • Rubinstein-Taybi syndrome2 tests
  • Rubinstein-Taybi syndrome 22 tests
  • Saethre-Chotzen syndrome3 tests
  • Scaphocephaly, maxillary retrusion, and mental retardation2 tests
  • Senior-Loken syndrome 61 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
  • Sepiapterin reductase deficiency1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Spastic paraplegia 11 test
  • Stargardt disease 12 tests
  • Systemic lupus erythematosus2 tests
  • Thanatophoric dysplasia type 14 tests
  • Thanatophoric dysplasia, type 23 tests
  • Thrombophilia due to activated protein C resistance1 test
  • Townes-Brocks syndrome 11 test
  • Transcobalamin I deficiency1 test
  • Transcobalamin II deficiency1 test
  • Trigonocephaly 12 tests
  • Tyrosinase-negative oculocutaneous albinism1 test
  • Tyrosinase-positive oculocutaneous albinism1 test
  • VACTERL association with hydrocephalus2 tests
  • Vasculopathy, retinal, with cerebral leukodystrophy2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency2 tests
  • Von Hippel-Lindau syndrome2 tests
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C1 test
  • Wilms tumor 12 tests
  • X-linked hydrocephalus syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 06D0513583, Expiration date: 2017-02-08
  • CAP, Number: 1186718, Expiration date: 2016-04-23

Licenses

  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1860, Expiration date: 2015-06-30

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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