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Lynch Syndrome Panel

A focused 5-gene panel for evaluating Lynch Syndrome and constitutional mismatch repair deficiency syndrome (CMMR-D), powered by the Helix Exome+® platform.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Panel Description

This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with Lynch Syndrome and constitutional mismatch repair deficiency syndrome (CMMR-D).

View the complete description of this panel

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

A relevant personal and/or family history suggestive of a hereditary form of cancer.

Methodology

This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with Lynch Syndrome and constitutional mismatch repair deficiency syndrome (CMMR-D).

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesEPCAM: analysis is limited to CNV of exons 8-9; MLH1: analysis includes CNV of the promoter; MSH2: analysis includes detection of the Boland inversion (inversion of exons 1-7) and detection of c.942+3... Genomic buildGRCh38

Genes Tested

EPCAM
MLH1
MSH2
MSH6
PMS2

Showing 5 of 5 genes in this panel

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Important Panel Information

Turnaround time: Typically 7-21 days (standard), Typically < 5 days (requery)

Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping Instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

This panel includes genes that have an established association with Lynch Syndrome and constitutional mismatch repair deficiency syndrome (CMMR-D).

The genes on this panel were specifically selected for their established association with hereditary cancer predisposition. Identification of a pathogenic variant may facilitate increased cancer screening and preventative surgery for early-detection and prevention. Identification of a pathogenic variant also helps identify at-risk family members, who can pursue genetic testing and preventive measures.

The genes on this panel are associated with conditions that have autosomal dominant and/or autosomal recessive inheritance. Note that some of these genes may also be associated with other unrelated conditions; this means that when undergoing this test, there is a possibility of incidentally detecting carrier status for, or predisposition to, one of these conditions.

Analyzing a wide range of genes in a single test can provide an efficient, cost-effective method of testing for several hereditary cancer conditions. This approach increases the chance of identifying the underlying diagnosis responsible for an individual’s or family’s cancer predisposition.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.