ColoSeq™ - Polyposis Panel (APC and MUTYH Only)

Questions: 1-800-256-0893

Background

ColoSeq Polyposis Panel

ColoSeq™ Polyposis is a genetic test for hereditary adenomatous polyposis syndromes that uses next-generation sequencing to detect mutations APC and MUTYH. Mutations in APC are associated with familial adenomatous polyposis (FAP), an autosomal dominant condition that can be associated with markedly elevated colon cancer risk. Mutations in MUTYH are associated with an autosomal recessive adenomatous polyposis syndrome. The assay sequences all exons, introns, and flanking sequences of APC and MUTYH. Large deletions and duplications are also detected by the assay and reported. For the full ColoSeq™ Lynch and Polyposis Panel click here.

ColoSeq - Lynch and Polyposis Panel (11-gene comprehensive colon cancer risk panel)

For information on ColoSeq™ Lynch and Polyposis Panel see ColoSeq - Lynch and Polyposis

Methods

This assay sequences all exons and flanking intronic sequences of APC and MUTYH. A total of 100 kb are sequenced and the average coverage ranges from 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: "ColoSeq™ – Polyposis (APC and MUTYH)"

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 COSEQ

CPT Codes and Pricing

• CPT codes: 81201, 81203 (Please note: these reflect the 2013 CPT code changes)
• Please contact 1-800-256-0893 for 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

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.