Hereditary Mixed Polyposis Syndrome - Ambry Genetics

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Oncology

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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.

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.

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.

Genes analyzed

Test Requisition Form

Cancer (Abbreviated)

Why Is This Important?

Option to modify frequency and initial age of colonoscopy and other screening
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.

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.