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Color's technical specifications

  • Jul 11, 2014

The Color Test analyzes the most relevant genes for mutations that could increase your patient’s risk for hereditary

  • breast
  • colorectal
  • melanoma
  • ovarian
  • pancreatic
  • prostate
  • stomach, and
  • uterine cancers

The genes analyzed are:

APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11 and TP53.

Coverage and Accuracy

  • Color performed a blinded study to assess the validity of our test. Over 500 samples were studied, and all genetic variants were detected with greater than 99% accuracy
  • Color's CAP-accredited and CLIA-certified laboratory uses the newest technology, including 2D barcoded tubes and advanced liquid-handling robots, to ensure the integrity of every result
  • The quality of every sample is checked multiple times as it moves through the sequencing and interpretation process
  • A certified medical professional reviews every result before it is released.

Specifications:

  • Full sequencing and large rearrangements of all 30 genes
  • Minimum read depth: 20X (>99% at >50X)
  • Median read depth: 250X (up to >1000X)
  • Intronic coverage: +/- 20bp, as well as intronic tiling
  • Non-canonical splice sites included

 

*Please note that research and screening guidelines for genes associated with hereditary prostate cancer are still in their early stages. It is part of the Color service to keep you updated if any information related to your results changes.
** Only positions known to impact cancer risk analyzed:

  • CDK4: only chr12:g.58145429-58145431 (codon 24) analyzed
  • EPCAM: only large deletions and duplications including 3’ end of the gene analyzed
  • GREM1: only duplications in the upstream regulatory region analyzed
  • MITF: only chr3:g.70014091 (including c.952G>A) analyzed
  • POLD1: only chr19:g.50909713 (including c.1433G>A) analyzed
  • POLE: only chr12:g.133250250 (including c.1270C>G) analyzed

*** PMS2: Exons 12-15 not analyzed