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.
6-21 days
≤ 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).
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Our team is available Monday through Friday, 9am-5pm Pacific Time.
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
> 99%
> 99%
> 99%
> 99%
> 90%
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+3...
GRCh38
Genes Tested
Showing 5 of 5 genes in this panel