PreSENTIA: Colorectal Non-Polyposis

Synonyms: -

Material:

Buccal swab

TAT:

2-3 weeks

Method:

NGS

Overview

Hereditary non-polyposis colorectal cancer (HNPCC), is an autosomal dominant disorder which can run in families and accounts for about 1-4% of colorectal cancer cases. Patients with HNPCC usually do not show any polyps or if they show, they will be in small numbers. HNPCC was found to be associated with germline mutations in the DNA mismatch repair (MMR*) genes which can cause mistakes in the repair of the DNA during replication, leading to uncontrolled growth. Another gene that was found to cause HNPCC is EPCAM. Large deletions in this gene can lead to reduction in MSH2 expression resulting in the incorrect repair of the DNA and development of HNPCC.

PreSENTIA Colorectal Non-Polyposis cancer panel tests for numerous germline mutations in 5 genes that could cause colorectal cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

*MMR genes: MLH1, MSH2, MSH6 and PMS2

PreSENTIA: Colorectal Non-Polyposis

5 Gene(s)*

EPCAM

MLH1

MSH2

MSH6

PMS2

Who is the test for

How many hereditary cancer syndromes are associated with this panel

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 01.10.2026

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Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

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