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.

Gene

RefSeq

Disease Association

#Exons

Complete Sequencing

Del/Dup

Added

APC

NM_000038.5

FAP, Turcot

16

Yes

Yes

November 2011

MUTYH

NM_001128425.1

MAP

16

Yes

Yes

November 2011

ColoSeq - Lynch and Polyposis Panel (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.

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

CPT Codes and Pricing

Billing and Insurance Pre-Authorization

Turnaround Time

12 weeks

Reference Range

No mutation detected.

Contact Us

For further information:

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.

genetics/COSEQP (last modified 2013-10-03 16:35:42)