(Next Generation Sequencing)

CE-IVD

GENE  MUTATION AND TUMOR

Lynch syndrome is a highly permeable, autosomal dominant susceptibility syndrome, which is composed of mismatch repair genes (especially MLH1, MSH2, MSH6 or PMS2). Single allele germline mutation, or epigenetic silencing of adjacent MSH2 genes caused by germline deletion in EPCAM. Lynch syndrome can cause colorectal cancer and tumors in other parts (including endometrium, ovary, stomach, small intestine, liver and gallbladder, upper urethra, brain and skin).Its risk is higher than that of normal people.

NCCN guidelines recommend that all patients with newly diagnosed colorectal cancer should be screened by immunohistochemistry or microsatellite instability detection of four MMR proteins (MSH2, MSH6, PMS2, MLH1) in tumor tissue.For dMMR patients identified by immunohistochemistry, it is suggested to further detect germline mutations of protein expression deletion genes.For patients with microsatellite instability determined by MSI method, germline mutation detection of MSH2, MSH6, PMS2, MLH1 and EPCAM genes is recommended.

American Gastroenterological Association Institute Guideline on the Diagnosis and Management of Lynch Syndrome

DETECTED GENES

PRODUCT INFORMATION

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‍‍DETECTION SIGNIFICANCE ‍‍

‍‍‍‍Lynch syndrome gene screening can be used to guide clinicians for patient management.At the same time, the V600E mutation of BRAF gene was detected to assist the screening of Lynch syndrome in patients with colorectal cancer.‍‍‍‍

‍‍APPLICABLE PEOPLE‍‍

‍‍‍‍1. MSI was used to detect patients with microsatellite instability and suspected Lynch syndrome related tumors.‍‍‍‍‍‍

‍‍‍‍2.Tumor patients with dMMR detected by immunohistochemistry.‍‍‍‍

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FEATURES & ADVANTAGES

‍‍1.Ease of Use：‍‍Based on the patent technology RingCap®, Library preparation in 2 steps.

‍‍2.Fast Results：The library  preparation  takes only 3.5 hours, 2 working days from sampling to reporting.

‍‍3.High Sensitivity：Sequencing depth can be above 500 x, the sensitivity can reach up to 5%.‍‍‍‍

‍‍4.Comprehensive Coverage：A single test for mutations in the coding region, exon-intron junction region of five genes associated with Lynch syndrome, with broad coverage.‍‍

‍‍Detection of V600E mutations in the BRAF gene as a basis for exclusionary diagnosis of Lynch syndrome.‍‍‍‍

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DETECTION PROCESS 

1. Nucleic Acid Extraction

2. Library Preparation （3.5 hours total time）

3. Sequencing

4. Auto-data Analysis

5. Report