Medical Genetics Test Details
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|High Risk Hereditary Colorectal Cancer Panel|
|Test Information:||Confirmation of Clinical Diagnosis, Differential Diagnosis
The High Risk Hereditary Colorectal Cancer Panel uses next-generation sequencing and deletion/duplication analysis to simultaneously analyze selected genes associated with an increased risk for a wide range of cancers. Approximately 5 to 10% of all colorectal cancers are believed to be hereditary. In general, this test is used when a patient's medical history and family history findings strongly suggest that there is an underlying genetic etiology of colorectal cancer.
Twelve genes involved in high risk hereditary colorectal cancer are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation Sequence (NGS) technology. The genes analyzed by this panel are tabulated below. Sequencing of these genes is also available using the associated individual test codes.
APC, BMPR1A, EPCAM*, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, and TP53.
All coding exons of these 12 genes and at least 20 base pairs of flanking intronic sequences are analyzed. All exonic variants and intronic variants within 20 bp of the exon/intron boundary will be reported. Sequence analysis will not detect genomic structural rearrangements (e.g. heterozygous deletions, duplications, and inversions), large heterozygous insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants detected by NGS are confirmed by Sanger sequencing.
The panel also includes gross copy number analyses of these genes by MLPA and/or aCGH. Certain exons with no known gross deletion/duplication mutations, or certain genes/exons with highly homologous sequences in the genome may not be evaluated by this copy number analysis.
A Hereditary Colorectal/Gastrointestinal Cancer Panel (Test code: 22804) is also available, which is more comprehensive and includes 22 genes associated with colorectal/gastrointestinal cancer.
*Only copy analysis for this gene will be reported since there are no known sequencing variations associated with cancer in this gene.
|Methodology:||Targeted Capture followed by Massively Parallel Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA), and/or Array CGH Analysis (aCGH).
|Gene Name:||APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53|
|Sample & Shipping Information|
|Test Requisition:||Cancer Molecular Germline|
|Requirements:||Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children).
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
|Turn Around Time:||6 weeks|
|List Price:||*For Insurance or Institutional Prices, please call.|
|CPT Codes:||81292x1, 81295x1, 81298x1, 81317x1|