Research Bench Lab

Genomic Sciences and Precision Medicine Center (GSPMC)

For Health Care Providers

A New Medical Landscape. We have arrived in the time of Personalized Medicine. Although an overwhelming 98% of our human genome is still unknown, we now are able to identify molecular variations in our DNA that are causing disease and suffering, and there is the potential for cure. Tailoring medicine to our personal genetic profile was unthinkable a generation ago. With a dramatic effect on all medical disciplines, this is a new milestone and a revolution in the practice of medicine. We hope each patient will benefit from this fundamental advancement.
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Our Expertise

Launched in 2012, the GSPMC Clinical Diagnostic Laboratory at the Medical College of Wisconsin (MCW) was one of the first CLIA-certified laboratories worldwide that offered Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) as a clinical diagnostic test. Since then WES has increasingly become an integral diagnostic step in clinical decision-making for many diseases and conditions with a known or suspected genetic disposition.
Today, the GSPMC Clinical Diagnostic Lab is one of the nations most experienced clinical sequencing sites, and it is well known for the exceptional quality of its clinical reports. We work interdisciplinary with physicians, genetic counselors, and allied health professionals in the medical community, nationally and internationally, and we thrive on making a difference in the life of each patient.
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Genetic Counseling

Genetic counselors provide an integral component in personalizing the care of patients. These professionals have the genetic expertise necessary to effectively provide the patient and other members of the care team with information on the often complex genetic basis of many diseases. With this information, personalized screening, diagnostic testing and other treatment modalities can be implemented, improving the care of the patient.

Test Specifications

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Custom Clinical Sanger Sequencing (CCS)
Custom Clinical Sequencing (CCS) is used to confirm a previously suspected genetic variant detected by next generation sequencing or research sequencing. This test may also be used to test the affected status of family members of an individual with a confirmed variant, when the affected family member’s blood or DNA is provided as a control.

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Chromatin Immunoprecipitation (ChIP) Sequencing
Analyze protein interactions with DNA and determine the sites on DNA where certain proteins or histone marks are bound.

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MicroRNA and miRNA Sequencing
Test Name
microRNA and miRNA Sequencing

Test Information/Description
Sample preparation will enrich for small RNA

Methodology
If total RNA is provided, input total RNA quality control with fragment analysis and quantification, library preparation (Captures small RNA with 3′ OH and 5′P modifications), Illumina sequencing. Recommended sequencing at 10 million reads per sample.

Test Limitations

Specimen Type
Total RNA, 1-1.5ug (at a concentration of at least 200ng/uL in nuclease free water); small RNA, 10-50ng (at a concentration of at least 2ng/uL in nuclease free water), quality and quantity of RNA will be verified in house prior to initiation of library preparation

Specimen Type and Requirements
Cells or fresh frozen tissue ** available with consultation; RNA extraction methods may be available for your cell or tissue type

Specimen Type
Completed library prep

Specimen Requirements
Sample numbers, adaptor sequence

Shipping Conditions
Dry ice (-80C), overnight

Turnaround Time
If RNA or completed library prep is provided, 4-6 weeks; RNA extraction and optimization may require additional 1-2 weeks
Reduced Representation Bisulfide Sequencing (RRBS)
Sequence the methylation status of particular CpG rich regions of the genome.

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RNA-Sequencing (RNA-Seq), Transcriptome
Determination of the presence and quantity of RNA transcripts in relative levels between control and experimental samples.

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Whole Exome Sequencing (WES)
Whole Exome Sequencing (WES) is used to detect variants in a patient’s exome in order to determine the role of genomic variants in disease outcomes.

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Whole Genome Sequencing (WGS)
Whole Genome Sequencing (WGS) is used to detect variants in a patient’s genome in order to determine the role of genomic variants in disease outcomes.

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Whole Exome / Genome Sequencing Data Analysis (WESDAT / WGSDAT)
Whole Genome Sequencing Data Analysis (WGSDAT) / Whole Exome Sequencing Data Analysis (WESDAT) is used to annotate and interpret variants in a patient’s genome in order to determine the role of the genomic variants in disease outcomes and to determine the regions of the genome where there is no sequence coverage.

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Forms

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Consultation
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Contact Us

Genomic Sciences and Precision Medicine Center (GSPMC)
Medical College of Wisconsin
8701 Watertown Plank Rd.
Milwaukee, WI 53226

(414) 955-4887
(414) 955-6516 (fax)
gspmc@mcw.edu

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