Single Gene Analysis by next-generation sequencing

Questions: 1-800-256-0893

Test Information

This test allows analysis of any single gene on the BROCA Cancer Risk, ColoSeq™ Lynch and Polyposis, or EpiPlex Epileptic Encephalopathy panels. To order, select Single Gene testing and write the gene in the space provided in the requisition. For the full BROCA Cancer Risk Panel click here, ColoSeq™ Lynch and Polyposis Panel click here, and EpiPlex Epileptic Encephalopathy Panel click here. This test uses next-generation sequencing to detect most mutations. The assay completely sequences all exons, introns, and flanking regions of these gene AND detects large deletions, duplications and mosaicism. For information about how University of Washington Department of Laboratory Medicine reports variants, see Variant Policy.


This assay sequences all exons and flanking intronic sequences of one user-selected gene from the BROCA, ColoSeq™, EpiPlex Panels. DNA is sequenced at an average coverage of 320 to >1,000 sequencing reads per bp. Genomic regions are captured using biotinylated RNA oliognucleotides (SureSelect), prepared in paired-end libraries with ~200 bp insert size, and sequenced on an Illumina HiSeq2000 instrument with 100 bp read lengths, in a modification of a procedure described by Pritchard et al. 2012 (1). Large deletions and duplications are detected using methods described by Nord et al. 2011 (2).

Requisition Form and Ordering Instructions

  1. Fill out a Clinical Lab Request - Genetics - available at UWMC Genetics Requisition

  2. Under “Check Test Requested,” check: "Single Gene"
  3. Write in the gene to be tested in the space provided.

Sample Requirements and Specimen Handling

10 mL whole blood in lavender top (EDTA) tube. ACD is also acceptable. Minimum 5 mL.

For additional details regarding specimen collection, handling and transport, see the Laboratory Medicine Online Test Guide for SGN

CPT Codes and Pricing

Billing and Insurance Pre-Authorization

Turnaround Time

8 weeks

Reference Range

No mutation detected.

Contact Us

For further information:


  1. Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, Nord AS, Gulden C, Kupfer SS, Swisher EM, Bennett RL, Novetsky AP, Jarvik GP, Olopade OI, Goodfellow PJ, King MC, Tait JF, Walsh T. ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing. J Mol Diagn. (2012)14:357-66. PubMed

  2. Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. PNAS (2010) 107:12629-33.

  3. Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. (2011) 12:184.

  4. Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. (2010) 11:31-46.

genetics/SGN (last modified 2015-05-07 14:31:56)