Orphanet: Diagnostik des nicht polypösen familiären Kolonkarzinoms Gene: MLH1, MSH2, MSH6, PMS2
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Diagnosis of familial nonpolyposis colon cancer (MLH1, MSH2, MSH6, PMS2 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 10/04/2017
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Last update: April 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (2)
List of genes tested (including panels) (4)

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

HNPCC (Hereditary non-polyposis colon cancer)
2015, 2016, 2018, 2019
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