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Microsatellite Instability
Research Genetic test
Help
offered by
Institute of Human Genetics
GTR Test Accession: Help GTR000569958.1
CANCERDIGESTIVE SYSTEMINHERITED DISEASE ... View more
Registered in GTR: 2020-01-10
View version history
Last annual review date for the lab: 2024-09-30 LinkOut
At a Glance
Conditions (3): Help
Carcinoma of colon; Familial colorectal cancer; Lynch syndrome
Analytes (2): Help
BRAF V600E; Microsatellite Instability
Genes (5): Help
EPCAM (2p21); MLH1 (3p22.2); MSH2 (2p21-16.3); MSH6 (2p16.3); PMS2 (7p22.1)
Study description: Help
Prevalence of microsatellite instability (MSI) and Lynch syndrome (LS) in …
Recruitment status: Help
Currently open
Eligibility criteria: Help
1. Patient is above 18 years of age 2. Patient …
Methods (3): Help
Molecular Genetics - Microsatellite instability testing (MSI): PCR; ...
Study Description
Name: Help
Personalised management of colorectal cancer using next generation sequencing based low cost microsatellite instability assay in India
Study short name: Help
MSI-CRC-India
Protocol number: Help
FRIGE/IEC/17/2019
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Prevalence of microsatellite instability (MSI) and Lynch syndrome (LS) in colorectal cancer patients in India is known. The aim of the study is to assess the prevalence of MSI and lS in CRC patients in India.
Study type: Help
Observational study
Offered by: Help
Institute of Human Genetics
Person responsible for the study: Help
Harsh Sheth, PhD, BS, Lab Director
Study contact: Help
Harsh Sheth, PhD, BS, Lab Director
Research contact policy: Help
Please contact PI on harsh.sheth@frige.co.in to participate in the study
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
1. Patient is above 18 years of age 2. Patient is willing to provide primary tumour biopsy (fresh/ FFPE) and EDTA treated peripheral blood sample. 3. Patient will provide pathology report along with primary tumour biopsy. 4. Patient can read and sign consent form.
Recruiting sites: Help
Patients are recruited at: 1. CIMS Hospital, Ahmedabad, India 2. HOC Vedanta Hospital, Ahmedabad, India 3. Dwarika Clinic, Ahmedabad, India 4. Sushrut Hospital, Mumbai, India
Consent form: Help
Consent Form
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 2
Analyte Associated Condition
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument
Microsatellite instability testing (MSI)
PCR
Applied Biosystems SeqStudio
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Targeted variant analysis
Quantitative PCR (qPCR)
Roche LightCycler 480
Technical Information
Test Procedure: Help
Each tumour biopsy will be analysed for microsatellite instability (MSI) using Promega MSI v1.2 kit. For all MSI-high tumours, BRAF V600E mutation testing will be carried out using Q-PCR. For MSI-high BRAF V600E negative tumours, germline MMR gene sequencing will be carried out to identify Lynch syndrome patients.
Recommended fields not provided:
Test Confirmation
Additional Information

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