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Lynch Syndrome/ HNPCC gene panel_ONCO

Test Name

Lynch Syndrome/ HNPCC gene panel_ONCO

Home Collection, Lab Visit

Test Code

GEN0359_ONCO

Test Components/ Genes/ Parameters

MLH1, MSH2, MSH6, PMS1, EPCAM, MSH3, MLH3, PMS2

Sample Report

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Test Information

TAT DETAILS

21 Days

PRE-TEST INSTRUCTIONS

Submit formalin fixed paraffin embedded Tissue Block. Ship at room temperature

CLINICAL UTILITY

Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a hereditary cancer syndrome that predisposes individuals to colorectal, endometrial, ovarian, stomach, small bowel, and other cancers. LS is caused by a single pathogenic variant in a mismatch repair (MMR) gene (MLH1, MSH2, MSH6, PMS2) or a pathogenic deletion in the EPCAM gene leading to MSH2 inactivation.

SPECIMEN STABILITY

Transport at ambient (18-25°C) temperature

METHODOLOGY

NGS

STORAGE TEMPERATURE

NA

SPECIMEN TYPE

Whole blood – EDTA vacutainer Dry – DBS card Amniotic Fluid – Sterile 15 ml Falcon tube Corionic Villus Sample – Sterile 15 ml Falcon tube with nutrient medium (provided by LifeCell) DNA – 1.5ml sterile cryotube”

Frequently Asked Questions

Lynch Syndrome/ HNPCC gene panel_ONCO
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a hereditary cancer syndrome that predisposes individuals to colorectal, endometrial, ovarian, stomach, small bowel, and other cancers. LS is caused by a single pathogenic variant in a mismatch repair (MMR) gene (MLH1, MSH2, MSH6, PMS2) or a pathogenic deletion in the EPCAM gene leading to MSH2 inactivation.
The patient can provide blood sample in EDTA
Recommended test for individuals with a personal and/or family history consistent with Lynch syndrome when documentation of a causative familial variant is not available
The test is performed by NGS technique
There is no risk associated as blood sample is required in EDTA vacutainer
The test is reported as pathogenic mutation detected (Positive) No pathogenic variants detected (Negative) and Inconclusive Variant of uncertain clinical significance detected