Hereditary Mixed Polyposis Syndrome 

A large duplication upstream of GREM1 is associated with hereditary mixed polyposis syndrome (HMPS).  Individuals with HMPS are predisposed to multiple types of colorectal polyps and colorectal cancer.  

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Test Code 8878
Turnaround Time (TAT) 14-21 days
Number of Genes 1
Specimen Requirements Click here

Ordering Options

Why Is This Important?

  1. Option to modify frequency and initial age of colonoscopy and other screening
  2. Identify at-risk family members

When To Consider Testing

No clear guidelines for GREM1 testing have been established; however, the American College of Medical Genetics and Genomics (ACMG) and National Society of Genetic Counselors (NSGC) have recently recommended referral for consideration of GREM1 testing for anyone with >10 colorectal polyps of mixed histology.1

Mutation Detection Rate

Ambry's GREM1 duplication analysis can detect >99.9% of described duplications in the gene, when present (analytic sensitivity).

Test Description

Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Gross deletion/duplication analysis is performed to determine copy number utilizing a custom targeted chromosomal microarray. Only the status of the 40kb 5’UTR gross duplication is analyzed and reported.

 

1. Hampel H, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med. 2015; 17(1):70-87.

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