Background

ColoSeq Single Gene

This test is for a single gene selected from the ColoSeq™ Lynch and Polyposis panel, which must be written in on the requisition. For the full ColoSeq™ Lynch and Polyposis Panel click here. This test uses next-generation sequencing to detect most mutations in MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, CDH1, PTEN, STK11, TP53, SMAD4, or BMPR1A. Mutations in these genes are associated with Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM), familial adenomatous polyposis (APC), MUTYH-associated polyposis, Li-Fraumeni (TP53), Hereditary Diffuse Gastric Cancer (CDH1), Cowden Syndrome (PTEN), Peutz-Jeghers (STK11), Turcot syndrome (APC), PTEN Hamartoma Tumor Syndrome (PHTS) , Bannayan-Riley-Ruvalcaba Syndrome (PTEN), and Muir-Torre syndrome (MLH1 and MSH2), Juvenile Polyposis syndrome (SMAD4, BMPR1A). The assay completely sequences all exons, introns, and flanking regions of these genes AND detects large deletions and duplications.

Methods

This assay sequences all exons and flanking intronic sequences of one user-selected gene from the ColoSeq™ Lynch and Polyposis Panel. 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

Fill out a Clinical Lab Request - Genetics - available at UWMC Genetics Requisition
Under “Check Test Requested,” check: "ColoSeq™ – Single Gene"
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.

Ship specimen at room temperature for overnight delivery. Specimen can be held for up to 7 days before shipping if refrigerated.
Ship specimens to:
UW MEDICAL CENTER
LABORATORY MEDICINE - GENETICS LAB
1959 NE PACIFIC ST, ROOM NW220
SEATTLE, WA 98195-7110

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

CPT Codes and Pricing

Please contact 1-800-256-0893 for CPT codes and pricing

Billing and Insurance Pre-Authorization

We offer insurance pre-authorization services
206-616-8605 direct line
or 1-800-256-0893

Turnaround Time

12 weeks

Reference Range

No mutation detected.

Genetic Counseling

Genetic counseling can be useful to patients and families considering genetic testing. The laboratory can provide referrals to genetics clinics in the patient’s locale or a listing can be found at http://www.genetests.org .

Contact Us

For further information:

ColoSeq™ Inquiries: 1-800-256-0893
Other tests offered by the Genetics and Solid Tumor Diagnostic Laboratory
Supervisor: Deborah Barden, Ph.D.
Genetic Counselor: Angela Jacobson, M.S., L.G.C.
Director: Colin C. Pritchard, M.D., PhD.
Director: Karen Stephens, Ph.D.
Director: Jonathan Tait, M.D., Ph.D.

References

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
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.
Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. (2011) 12:184.
Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. (2010) 11:31-46.