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
Allan-Herndon-Dudley syndrome2 tests
Alport syndrome 1, X-linked recessive1 test
Alport syndrome, autosomal recessive1 test
Alstrom syndrome1 test
Atypical hemolytic-uremic syndrome 11 test
Auditory neuropathy1 test
Autosomal recessive multiple pterygium syndrome2 tests
Benign hereditary chorea1 test
Borjeson-Forssman-Lehmann syndrome1 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 axonal type 2C1 test
Charcot-Marie-Tooth disease, type 2N1 test
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
Coenzyme Q10 deficiency, primary 11 test
Coenzyme Q10 deficiency, primary, 31 test
Coenzyme Q10 deficiency, primary, 51 test
Coenzyme Q10 deficiency, primary, 61 test
Coenzyme Q10 deficiency, primary, 81 test
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 61 test
Coffin-Siris syndrome 71 test
Combined oxidative phosphorylation deficiency 121 test
Combined oxidative phosphorylation deficiency 251 test
Congenital disorder of glycosylation, type Ia1 test
Corticosterone methyloxidase type 1 deficiency1 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
Epidermolysis bullosa junctionalis with pyloric atresia1 test
Epilepsy, idiopathic generalized 82 tests
Epilepsy, progressive myoclonic 4, with or without renal failure1 test
Familial hypercholesterolemia1 test
Familial hypocalciuric hypercalcemia1 test
Familial isolated hypoparathyroidism2 tests
Familial mediterranean fever, autosomal dominant1 test
Familial renal hypouricemia1 test
Feingold syndrome 11 test
Feingold syndrome 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
Hereditary nephrotic syndrome1 test
Hereditary spastic paraplegia 21 test
Hidrotic ectodermal dysplasia syndrome1 test
Hypercalcemia, infantile, 12 tests
Hypocalcemia, autosomal dominant 11 test
Hypocalcemia, autosomal dominant 1, with bartter syndrome1 test
Hypocalciuric hypercalcemia, familial, type 11 test
Hypomyelinating leukodystrophy 72 tests
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
Hypomyelination and Congenital Cataract2 tests
Hypomyelination with brainstem and spinal cord involvement and leg spasticity1 test
Hypothyroidism, congenital, nongoitrous, 21 test
Hystrix-like ichthyosis with deafness1 test
Idiopathic nephrotic syndrome1 test
Imerslund-Gräsbeck syndrome1 test
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1 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 dominant2 tests
Leukodystrophy, hypomyelinating, 112 tests
Leukodystrophy, hypomyelinating, 22 tests
Leukodystrophy, hypomyelinating, 62 tests
Leukodystrophy, hypomyelinating, 92 tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
Leukoencephalopathy, progressive, with ovarian failure1 test
Lig4 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 mental retardation1 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
Mental retardation, autosomal dominant 141 test
Mental retardation, autosomal dominant 151 test
Mental retardation, autosomal dominant 161 test
Mental retardation, autosomal dominant 271 test
Metatrophic dysplasia1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Mutilating keratoderma1 test
Nail-patella syndrome1 test
Nephropathy with pretibial epidermolysis bullosa and deafness1 test
Nephrotic syndrome type 161 test
Nephrotic syndrome, type 101 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 41 test
Nephrotic syndrome, type 5, with or without ocular abnormalities1 test
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 71 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
Pelizaeus-Merzbacher disease2 tests
Pendred syndrome1 test
Renal hypouricemia 21 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, distal, autosomal recessive, 11 test
Spinal muscular atrophy, type II1 test
Spinal muscular atrophy, type IV1 test
Spondyloepiphyseal dysplasia Maroteaux type1 test
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spondyloocular syndrome, autosomal recessive1 test
Syndromic X-linked intellectual disability Lubs type1 test
TARP syndrome1 test
Timothy syndrome1 test
Werdnig-Hoffmann disease1 test
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