Genomic Sciences and Precision Medicine Center (GSPMC)

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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Analyze protein interactions with DNA and determine the sites on DNA where certain proteins or histone marks are bound.

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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

Sequence the methylation status of particular CpG rich regions of the genome.

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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) 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) 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 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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Research Consultation Form (DOCX)

Clinical Test Requisition Form | Advanced Beneficiary Notice of Noncoverage (ABN) (DOCX)

Hereditary Cancer Panel Requisition (PDF)

Hereditary Cancer Genetic Consent Form (PDF)

Hematopathology Requisition (PDF)

Solid Tumor Requisition (PDF)

Children’s Oncology Group Requisition (PDF)

General Oncology Requisition (PDF)

Prostate Liquid Biopsy Requisition (PDF)

Immunohistochemistry and Special Stain Requisition (PDF)

Specimen Requirements and Handling Procedures (PDF)

Cancer Profiles Specimen Requirements and Handling Procedures (PDF)

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