Orphanet: Diagnostik des HNPCC Syndroms Gene: MLH1, MSH2, MSH6, PMS2 Sequenzierung MLPA Mikrosatellitendiagnostik

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Diagnosis of HNPCC syndrome (MLH1, MSH2, MSH6, PMS2 genes : sequencing/ MLPA/ microsatellite analysis)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 30/06/2009
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Last update: June 2009

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (4)

Quality management


EQA scheme(s) organized by EMQN

HNPCC (Hereditary non-polyposis colon cancer)
2016, 2017, 2018
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.