Herediitary Cancer Comprehensive


Sunquest Code:HERCOMCoPath Code:HERCOM
Epic Code:LAB8159Epic Name:Hereditary Cancer Comprehensive
Methodology:Next generation sequencing
Turnaround Time:Testing is performed Mon-Fri; results are reported within 4-6 weeks.
Special Instructions:Gene(s) or the name of the panel should be indicated in the comment section of EPIC order.
A signed informed consent in the patient's medical record is required. The consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.
Bone Marrow Transplant Patients: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostic lab to see if a pre-transplant sample is available.
Associated Links:

NGS Genetic Testing Consent Form, MD Hereditary Order Instructions



Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum\Peds Volume:3 mL
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Causes for Rejection:Frozen or clotted specimen, incorrect anticoagulant, specimen more than 5 days old. Sample collected from bone marrow transplant recipient. Samples tested in hematology using automated instrumentation not accepted. DNA extracted at a non-CLIA certified (or equivalent) lab.


Processing and Shipping

Specimen Processing:Do not process. Store at room temperature.
Shipping Instructions:Ship at room temperature.
Stability:5 days at room temperature.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:By report.
Use:The comprehensive cancer panel is a genetic test which analyzes 38 genes known to be associated with an increased lifetime risk of breast, colon, gynecologic and other cancers. For many of the genes, published medical guidelines exist for detection, prevention, risk reduction and/or treatment. This assay utilizes a next generation sequencing (NGS) platform. This platform allows simultaneous sequencing of a large number of genes using a single assay. Genomic DNA is extracted from the sample, and the sequencing libraries are prepared according to standard Illumina protocols using the TruSight One Sequencing Panel for enrichment of targeted genes. The enriched DNA libraries are sequenced on an Illumina HiSeq 2500 instrument. Raw sequencing reads are mapped to the reference genome usig BWA. Raw alignment files are realigned in the neighborhood of indels, and recalibrated for base quality accuracy using the Genome Analysis Tool Kit (GATK) Point mutaiton and indel calls in exons and adjoining intronic regions are made using the  GATK Unified Genotyper. Variants are interpreted according to guidance issued by the American College of Medical Genetics.


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