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Molecular Diagnostics Lab (Nemours Alfred I. duPont Hospital for Children)

General information

Molecular Diagnostics Lab
Nemours Alfred I. duPont Hospital for Children
1600 Rockland Road
RC1 lab 155
Wilmington
Delaware
United States - 19803
http://www.nemours.org/pediatric-research/labservices/diagnostic/molecular-diagnostics-lab.html
Organization ID: 28338

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 167

Gene

GeneSubmissionsLast Updated
APOL13Jan 20, 2017
BRAF9Dec 22, 2015
CASR4Jan 20, 2017
CHRNG2Jan 20, 2017
CYP24A16Jan 20, 2017
DOCK62Jan 20, 2017
EMD15Jan 20, 2017
FAM20A1Jan 20, 2017
GCM23Jan 20, 2017
HRAS8Dec 22, 2015
IGHMBP22Jan 20, 2017
KRAS2Dec 22, 2015
LDLR3Jan 20, 2017
LIG44Jan 20, 2017
LRRC568Dec 22, 2015
MAP2K13Dec 22, 2015
MECP236Dec 22, 2015
MIR17HG1Jan 20, 2017
MYCN6Jan 20, 2017
MYCNOS1Jan 20, 2017
PRKAR1A1Jan 20, 2017
PTPN1114Jan 12, 2017
PYGM2Jan 20, 2017
RAF11Dec 22, 2015
RBM101Jan 20, 2017
SHOC21Dec 22, 2015
SMN130Jan 20, 2017
SOS14Jul 14, 2017
TRPV46Jan 20, 2017

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 23 tests
ALG1-CDG1 test
Acrodysostosis 1 with or without hormone resistance1 test
Action myoclonus-renal failure syndrome1 test
Adult-onset autosomal dominant demyelinating leukodystrophy2 tests
Allan-Herndon-Dudley syndrome2 tests
Alstrom syndrome1 test
Auditory neuropathy1 test
Autosomal dominant congenital benign spinal muscular atrophy1 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 Alport syndrome1 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
Borjeson-Forssman-Lehmann syndrome1 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
Charcot-Marie-Tooth disease axonal type 2N1 test
Coenzyme Q10 deficiency, primary, 11 test
Coenzyme Q10 deficiency, primary, 31 test
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 61 test
Coffin-Siris syndrome 71 test
Combined oxidative phosphorylation defect type 251 test
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome1 test
Corticosterone 18-monooxygenase deficiency1 test
Costello syndrome1 test
DNA ligase IV deficiency1 test
Dalmatian hypouricemia1 test
Dilated cardiomyopathy 3B1 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
Epilepsy, idiopathic generalized, susceptibility to, 82 tests
Familial Mediterranean fever, autosomal dominant1 test
Familial hypercholesterolemia1 test
Familial hypocalciuric hypercalcemia1 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypoparathyroidism2 tests
Familial idiopathic steroid-resistant nephrotic syndrome1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
Feingold syndrome type 11 test
Feingold syndrome type 21 test
Finnish congenital nephrotic syndrome1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 3, susceptibility to1 test
Focal segmental glomerulosclerosis 4, susceptibility to2 tests
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 91 test
Glycogen storage disease, type V1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hereditary spastic paraplegia 21 test
Hidrotic ectodermal dysplasia syndrome1 test
High myopia-sensorineural deafness syndrome1 test
Hypercalcemia, infantile, 12 tests
Hypomyelinating leukodystrophy 112 tests
Hypomyelinating leukodystrophy 22 tests
Hypomyelinating leukodystrophy 62 tests
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
Hypomyelinating leukodystrophy 92 tests
Hypomyelination and Congenital Cataract2 tests
Hypomyelination with brain stem and spinal cord involvement and leg spasticity1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Hypouricemia, renal, 21 test
Ichthyosis, hystrix-like, with hearing loss1 test
Imerslund-Grasbeck syndrome1 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
Intellectual disability, autosomal dominant 141 test
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 161 test
Intellectual disability, autosomal dominant 271 test
Junctional epidermolysis bullosa with pyloric atresia1 test
Kugelberg-Welander disease1 test
LAMB2-related infantile-onset nephrotic syndrome1 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Lethal multiple pterygium syndrome1 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
Leukoencephalopathy, progressive, with ovarian failure1 test
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome2 tests
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A2 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1 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
Nail-patella syndrome1 test
Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome1 test
Nephrotic syndrome 161 test
Nephrotic syndrome, type 101 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 41 test
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 91 test
Nicolaides-Baraitser syndrome1 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
PMM2-CDG1 test
Pelizaeus-Merzbacher disease2 tests
Pendred syndrome1 test
Primary coenzyme Q10 deficiency 81 test
Qualitative or quantitative defects of dystrophin1 test
Rett syndrome1 test
Scapuloperoneal spinal muscular atrophy1 test
Schimke immuno-osseous dysplasia1 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 Alport syndrome1 test
X-linked Emery-Dreifuss muscular dystrophy1 test
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