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Molecular Diagnostics Lab (Nemours Children's Health, Delaware)

General information

Molecular Diagnostics Lab
Nemours Children's Health, Delaware
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: 299

Gene

GeneSubmissionsLast Updated
APOL13Jan 20, 2017
BRAF9Dec 22, 2015
CASR4Jan 20, 2017
CHRNG4Jun 13, 2023
CYP24A18Jun 13, 2023
DNASE1L16Jun 14, 2023
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
LOC1239562101Jun 23, 2023
LOC1300688694Jun 14, 2023
LRRC568Dec 22, 2015
MAP2K13Dec 22, 2015
MECP237Jun 14, 2023
MIR17HG1Jan 20, 2017
MYCN7Jun 13, 2023
MYCNOS1Jan 20, 2017
NKX2-143Jun 15, 2023
NPHS11Jun 14, 2023
PCNT8Jun 26, 2023
PRKAR1A1Jan 20, 2017
PTPN1114Jan 12, 2017
PYGM2Jan 20, 2017
RAF11Dec 22, 2015
RBM101Jan 20, 2017
SFTA343Jun 15, 2023
SHOC21Dec 22, 2015
SLC22A121Jun 13, 2023
SLC26A412Jun 26, 2023
SLC2A92Jun 13, 2023
SMN131Jun 15, 2023
SOS14Jul 14, 2017
TAFAZZIN58Jun 15, 2023
TRPV46Jan 20, 2017

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 258Jun 15, 2023
Acrodysostosis 1 with or without hormone resistance1Jan 20, 2017
Autosomal recessive multiple pterygium syndrome4Jun 13, 2023
Benign hereditary chorea2Jun 13, 2023
Brain-lung-thyroid syndrome41Jun 15, 2023
Charcot-Marie-Tooth disease axonal type 2C1Jan 20, 2017
Costello syndrome5Dec 22, 2015
Dalmatian hypouricemia1Jun 13, 2023
Familial hypocalciuric hypercalcemia 11Jan 20, 2017
Familial hypoparathyroidism1Jan 20, 2017
Feingold syndrome type 17Jun 13, 2023
Feingold syndrome type 21Jan 20, 2017
Finnish congenital nephrotic syndrome1Jun 14, 2023
Focal segmental glomerulosclerosis 4, susceptibility to3Jan 20, 2017
Glycogen storage disease, type V2Jan 20, 2017
Hypercalcemia, infantile, 12Jun 13, 2023
Hypercholesterolemia, familial, 13Jan 20, 2017
Hypouricemia, renal, 22Jun 13, 2023
Kugelberg-Welander disease4Jun 15, 2023
Metatropic dysplasia1Jan 20, 2017
Microcephalic osteodysplastic primordial dwarfism type II8Jun 26, 2023
Noonan syndrome 41Jul 14, 2017
Noonan syndrome-like disorder with loose anagen hair 11Dec 22, 2015
Pendred syndrome12Jun 26, 2023
Rett syndrome29Jun 14, 2023
Spinal muscular atrophy, type II2Jan 20, 2017
Spinal muscular atrophy, type IV1Jan 20, 2017
Spondylometaphyseal dysplasia, Kozlowski type1Jan 20, 2017
TARP syndrome1Jan 20, 2017
Werdnig-Hoffmann disease4Jan 20, 2017
X-linked Emery-Dreifuss muscular dystrophy3Jan 20, 2017
not provided81Jan 20, 2017
not specified14Jan 20, 2017

Testing in GTR

Disease nameNumber of 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
DNA ligase IV deficiency1 test
Dalmatian hypouricemia1 test
Dilated cardiomyopathy 3B1 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