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GTR Home > Laboratories > Molecular Diagnostics Lab

Molecular Diagnostics Lab

GTR Lab ID: 28338, Last updated:2024-02-15

Personnel

  • Director: Vicky Funanage, PhD, Lab Director
    Phone: 302-651-6819
    Fax: 302-651-6876
    Email: vfunanag@nemours.org
  • Director: Karen Gripp, MD, ABMGG Board Certified, ABP, Diplomate of the American Board of M, Medical Director
  • Susan Kirwin, BS, Staff
    Phone: 302-651-6777
    Fax: 302-651-6795
    Email: skirwin@nemours.org

Conditions and tests

  • 3-Methylglutaconic aciduria type 23 tests
  • Acrodysostosis 1 with or without hormone resistance1 test
  • Adult-onset autosomal dominant demyelinating leukodystrophy1 test
  • Allan-Herndon-Dudley syndrome1 test
  • Auditory neuropathy1 test
  • Autosomal dominant hypocalcemia 11 test
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 3B1 test
  • Autosomal recessive distal spinal muscular atrophy 11 test
  • Autosomal recessive multiple pterygium syndrome2 tests
  • Autosomal recessive nonsyndromic hearing loss 1A2 tests
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Bartter syndrome with hypocalcemia1 test
  • Benign hereditary chorea1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Brain-lung-thyroid syndrome1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
  • Cardiofaciocutaneous syndrome 13 tests
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Costello syndrome1 test
  • Dalmatian hypouricemia1 test
  • Dilated cardiomyopathy 3B1 test
  • DNA ligase IV deficiency1 test
  • Epilepsy, idiopathic generalized, susceptibility to, 82 tests
  • Familial hypercholesterolemia1 test
  • Familial hypocalciuric hypercalcemia1 test
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial hypoparathyroidism2 tests
  • Feingold syndrome type 11 test
  • Feingold syndrome type 21 test
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Glycogen storage disease, type V1 test
  • Hb SS disease1 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • High myopia-sensorineural deafness syndrome1 test
  • Hypercalcemia, infantile, 11 test
  • Hypomyelinating leukodystrophy 111 test
  • Hypomyelinating leukodystrophy 21 test
  • Hypomyelinating leukodystrophy 61 test
  • Hypomyelinating leukodystrophy 91 test
  • Hypomyelination and Congenital Cataract1 test
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypouricemia, renal, 21 test
  • Ichthyosis, hystrix-like, with hearing loss1 test
  • Kugelberg-Welander disease1 test
  • LEOPARD syndrome 21 test
  • LEOPARD syndrome 31 test
  • Lethal multiple pterygium syndrome1 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
  • Lowry-Wood 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
  • Metatropic dysplasia1 test
  • Microcephalic osteodysplastic primordial dwarfism type II1 test
  • Mutilating keratoderma1 test
  • Neuronopathy, distal hereditary motor, autosomal dominant 81 test
  • Noncompaction of left ventricular myocardium, familial isolated1 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Pelizaeus-Merzbacher disease1 test
  • Pendred syndrome1 test
  • Qualitative or quantitative defects of dystrophin1 test
  • Rett syndrome1 test
  • Roifman syndrome1 test
  • Scapuloperoneal spinal muscular atrophy1 test
  • Sickle cell-hemoglobin C disease1 test
  • Smith-McCort dysplasia 21 test
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spondylo-ocular syndrome1 test
  • Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Syndromic X-linked intellectual disability Lubs type1 test
  • TARP syndrome1 test
  • Timothy syndrome1 test
  • Werdnig-Hoffmann disease1 test
  • X-linked Emery-Dreifuss muscular dystrophy1 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: 2025-08-29

Licenses

  • PA - Pennsylvania Department of Health PADOH, Number: 33886, Expiration date: 2024-08-15

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