GTR Home > Laboratories > Molecular Diagnostics Lab

Molecular Diagnostics Lab

GTR Lab ID: 28338, Last updated:2016-02-25

Personnel

  • Director: Vicky Funanage, PhD, Lab Director
    Phone: 302-651-6819
    Fax: 302-651-6876
    Email: vfunanag@nemours.org
  • Susan Kirwin, BS, Laboratory Assistant Director
    Phone: 302-651-6777
    Fax: 302-651-6795
    Email: skirwin@nemours.org
  • Grace Hobson, PhD, Laboratory Contact
    Phone: 302-651-6829
    Fax: 302-651-6795
    Email: ghobson@nemours.org
  • Sara Mora, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 302-651-6039
    Fax: 302-651-6795
    Email: sara.mora@nemours.org

Conditions and tests

  • 3-Methylglutaconic aciduria type 23 tests
  • Acrodysostosis 1 with or without hormone resistance1 test
  • Allan-Herndon-Dudley syndrome1 test
  • Auditory neuropathy1 test
  • Benign hereditary chorea1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1 test
  • Cardiofaciocutaneous syndrome 13 tests
  • Charcot-Marie-Tooth disease type 2C1 test
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
  • Costello syndrome1 test
  • Deafness and myopia1 test
  • Deafness, autosomal dominant 3a1 test
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal recessive 1A2 tests
  • Deafness, autosomal recessive 591 test
  • Dilated cardiomyopathy 3B1 test
  • Distal spinal muscular atrophy, congenital nonprogressive1 test
  • Dystrophinopathies1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Epilepsy, idiopathic generalized 82 tests
  • Familial hypercholesterolemias1 test
  • Familial hypocalciuric hypercalcemia1 test
  • Familial renal hypouricemia1 test
  • Feingold syndrome 21 test
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Glycogen storage disease, type V1 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Hypocalcemia, autosomal dominant 11 test
  • Hypocalcemia, autosomal dominant 1, with bartter syndrome1 test
  • Hypocalciuric hypercalcemia, familial, type 11 test
  • Hypomyelinating leukodystrophy 71 test
  • Hypomyelination and Congenital Cataract1 test
  • Hypoparathyroidism familial isolated2 tests
  • Hystrix-like ichthyosis with deafness1 test
  • Idiopathic hypercalcemia of infancy1 test
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
  • Kugelberg-Welander disease1 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Lethal multiple pterygium syndrome1 test
  • Leukodystrophy, adult-onset, autosomal dominant1 test
  • Leukodystrophy, hypomyelinating, 21 test
  • Leukodystrophy, hypomyelinating, 61 test
  • Leukodystrophy, hypomyelinating, 91 test
  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation1 test
  • Lig4 syndrome1 test
  • MECP2 duplication syndrome1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a1 test
  • Meier-Gorlin syndrome 11 test
  • Meier-Gorlin syndrome 21 test
  • Meier-Gorlin syndrome 31 test
  • Meier-Gorlin syndrome 41 test
  • Meier-Gorlin syndrome 51 test
  • Metatrophic dysplasia1 test
  • Microcephalic osteodysplastic primordial dwarfism type 21 test
  • Mutilating keratoderma1 test
  • Noncompaction of left ventricular myocardium, familial isolated1 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan-like syndrome with loose anagen hair1 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Pelizaeus-Merzbacher disease1 test
  • Pendred's syndrome1 test
  • Renal hypouricemia 21 test
  • Rett syndrome1 test
  • Scapuloperoneal spinal muscular atrophy1 test
  • Smith McCort dysplasia 21 test
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy type 41 test
  • Spinal muscular atrophy, distal, autosomal recessive, 11 test
  • Spinal muscular atrophy, type II1 test
  • Spondyloepiphyseal dysplasia Maroteaux type1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • TARP syndrome1 test
  • Thyroid agenesis1 test
  • Timothy syndrome1 test
  • Werdnig-Hoffmann disease1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 08D0706140, Expiration date: 2017-08-29

Licenses

  • PA - Pennsylvania Department of Health PADOH, Number: 033886, Expiration date: 2016-08-15

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.