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
Requery (SOQO)
≤ 5 days
Genes Tested
5
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).
Order This Test
Contact our clinical team to order this panel or learn more.
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 notes
EPCAM: 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+3A>T.
Genomic build
GRCh38
Genes Tested
5 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 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.
Clinical 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).
Ready to order this test?
Contact our clinical team to order the Lynch Syndrome Panel for your patients.