for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.
Order NowNo 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
Ambry's GREM1 duplication analysis can detect >99.9% of described duplications in the gene, when present (analytic sensitivity).
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.