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All Facilities >> Nemours/Alfred I. duPont Hospital for Children >> Biomolecular Core Laboratory (Biomolecular)

Biomolecular Core Laboratory (Biomolecular)

Facility Details

About This Facility

Services and Equipment

Publications

Awards & Associations

Metadata

Nemours/Alfred I. duPont Hospital for Children

Alfred I. duPont Hospital for Children

1600 Rockland Rd

Wilmington, DE 19803

United States of America

https://my.ilabsolutions.com/account/signup/299?sc_id=3122

Quicklinks:

https://coremarketplace.org/BiomolecularCoreLab https://coremarketplace.org/RRID:SCR_018265

Facility LIMS Page

https://my.ilabsolutions.com/account/signup/299?sc_id=3122

Primary Contact:

Jennifer Holbrook

Last Updated: 04/26/2022

Facility RRID

RRID:SCR_018265

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Facility Grant Number

P30GM114736; P20GM103446

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Facility Details

Statement of purpose: A resource for the staff of the Alfred I. duPont Hospital for Children, Nemours affiliates, COBRE / INBRE investigators and outside customers, the Biomolecular Core Laboratory is a centralized, state-of-the-art facility that offers expertise in molecular genetics and genomics. The service lab operates according to the policies set forth by the federal CLIA standards to provide high data integrity and to maintain appropriate safeguards for patient confidentiality. Services provided include:

QuantStudio (QS) 3D Digital PCR

Cell Line Authentication

Nucleic Acid Isolation/Quantitation (including AATI Fragment Analyzer)

Genotyping:
Allelic Discrimination Probes (SNP Real-Time PCR) Fragment Analysis (Capillary Electrophoresis up to 1200 bp)
DNA Sequencing (Sanger Sequencing)
Affymetrix Microarray (CNV CytoScan, SNP arrays)

Expression Analysis:
Pathway-focused Real-Time qPCR (mRNA and miRNA)
Affymetrix Microarray (global gene expression, transcriptome assays)

Shared Instrumentation:
Beckman Biomek 3000 & Biomek 4000 Liquid Handler, NanoDrop 2000c, Nanodrop ONE, QS7 FLEX 384-well Real-Time Genetic Analyzer, PCR Nucleic Acid Hood/Workstation, Veriti thermal cyclers.

CLIA-Certified Site: Operating under strict HIPAA regulations, the service core unit currently supports the Nemours Molecular Diagnostic DNA sequencing and fragment analysis CLIA-certified tests.

Delaware Valley Network: The Nemours Biomolecular Core Laboratory provides backup services to other cores in the Delaware Valley Network including DNA sequencing coverage services for the University of Delaware DNA Sequencing and Genotyping Core.

Facility Policies

Services are offerred outside of Nemours/Alfred I. duPont Hospital for Children

Consulting is offerred outside of Nemours/Alfred I. duPont Hospital for Children

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Services offered:

Capillary Electrophoresis

Cell Line Authentication

Copy Number Variation (CNV)

Nucleic Acid Extraction

Outreach

PCR Arrays

Pharmacogenomic

Protocol Development/Clinical Trial Coordination

Sequencing - Capillary Sequencing

Sequencing - DNA Sequencing

Shared Instrumentation Oversight & Maintenance

Facility Equipment

Thermo Scientific™ Nanodrop 2000 microvolume spectrophotometer

Thermo Scientific™ NanoDrop 2000 is a full-spectrum, UV-Vis spectrophotometers that quantifies and assesses purity of DNA, RNA, Protein and more. The NanoDrop 2000 and its series companion 2000c have patented sample retention technology that measure sample volumes as small as 0.5μL. [Product Link]

RRID:SCR_018042

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Applied Biosystems 7900HT Fast Real-Time PCR System

The Applied Biosystems 7900HT is a real-time quantitative PCR system that combines 96- and 384-well plate compatibility and the TaqMan® Low Density Array with fully automated robotic loading-and now also offers optional Fast real-time PCR capability. The 7900HT System is a high-throughput real-time PCR system that detects and quantitates nucleic acid sequences. The Applied Biosystems 7900HT Fast Real-Time PCR System (7900HT Fast System) uses fluorescent-based PCR chemistries to provide: Quantitative detection of nucleic acid sequences using real-time analysis and Qualitative detection of nucleic acid sequences using end-point and dissociation-curve analysis. [Product Link]

RRID:SCR_018060

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Applied Biosystems GeneAmp 9700 PCR Thermocycler System

Automated PCR instrument for automated amplification of nucleic acids with Polymerase Chain Reaction. It has reaction volumes of up to 50 uL and sample temperature range of 4 to 99.9 C. [Product Link]

RRID:SCR_018436

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Agilent (AATI) Fragment Analyzer
Beckman Coulter Biomek 4000 Automated Liquid Handler
Beckman Coulter Biomek 3000 Automated Liquid Handler
Nucleic Acid Workstation
ABI 3500 Genetic Analyzer
Affymetrix GeneChip System 3000
QuantStudio 12K Flex Real-Time PCR System
QuantStudio 7 Flex Real-Time PCR System
QuantStudio 3D Digital PCR
Qubit

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Publications

Publications associated with this facility (Click To View):

1.) Sawamoto K, Karumuthil-Melethil S, Khan S, Stapleton M, Bruder JT, Danos O, Tomatsu S (2020 Sep 11). Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model. PMID: 32577432.

2.) Gripp KW, Baker L, Robbins KM, Stabley DL, Bellus GA, Kolbe V, Nauth T, Rosenberger G (2020 Jun 4). The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects. PMID: 32499600.

3.) LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics., Mefford HC, Sol-Church K (2019 Jan 3). GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. PMID: 30554721.

4.) Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER (2017 May). Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. PMID: 28284873.

5.) Cartledge DM, Robbins KM, Drake KM, Sternberg R, Stabley DL, Gripp KW, Kolb EA, Sol-Church K, Napper AD (2017). Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient. PMID: 28421158.

6.) Robbins KM, Stabley DL, Holbrook J, Sahraoui R, Sadreameli A, Conard K, Baker L, Gripp KW, Sol-Church K (2016 Dec). Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. PMID: 27589201.

7.) Wang Y, Li J, Kolon TF, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Stabley D, Kim CE, Sol-Church K, Hakonarson H, Devoto M, Barthold JS (2016 Oct 21). Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. PMID: 27769252.

8.) Rossi SL, Lumpkin CJ, Harris AW, Holbrook J, Gentillon C, McCahan SM, Wang W, Butchbach MER (2016 Oct 14). Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons. PMID: 27641670.

9.) Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K (2016 Mar). Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. PMID: 26572961.

10.) Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME (2015 Jul). SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. PMID: 26247043.

11.) Crowgey EL, Stabley DL, Chen C, Huang H, Robbins KM, Polson SW, Sol-Church K, Wu CH (2015 Apr). An integrated approach for analyzing clinical genomic variant data from next-generation sequencing. PMID: 25649353.

12.) Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K (2015 Feb). Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. PMID: 25394726.

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Associations

Cancer Center

ABRF

Association of Biomolecular Resource Facilities

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Metadata

Links

All the links listed resolve to this core listing

https://coremarketplace.org/?FacilityID=117
https://coremarketplace.org/RRID:SCR_018265

SciCrunch Data Imports (data maintained by https://scicrunch.org)

Keywords:

Pediatric genetics, molecular biology service, genetics, Next Generation Sequencing, PCR, qPCR, microarray, Cell Line Authentication, Genotyping, Alfred I. duPont Hospital for Children, federal CLIA standards

Resource Type:

Resource, service resource, core facility, access service resource

Citation:

Nemours Biomolecular Core Facility (RRID:SCR_018265)

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Biomolecular Core Laboratory (Biomolecular)

Quicklinks:

Facility LIMS Page

Primary Contact:

Facility RRID

Facility Grant Number

Facility Details

Facility Policies

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Services offered:

Facility Equipment

(To see more facility information, click the in the upper right)

Publications

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Associations

NICL

NERLSCD

MAD SSCi

INBRE

CTSA

COBRE

Cancer Center

ABRF

(To see more facility information, click the in the upper right)

Metadata

SciCrunch Data Imports (data maintained by https://scicrunch.org)

(To see more facility information, click the in the upper right)

Add/Edit Facility Listing

Adding a facility listing to the CoreMarketplace will automatically assign your facility an RRID (more info). You will be notified of your RRID by email once it has been assigned.

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Contact Jennifer Holbrook

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Biomolecular Core Laboratory

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