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.  
Quick Reference
Test Code 8878
Number of Genes 1

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Whole Exome and SNP Array tests

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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