Orphanet: Molekulare Diagnostik des konstitutionellen Mismatch Reparatur Defizienz Syndroms MLH1, MSH2, MSH6 und PMS2 Gen

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Molecular diagnosis of constitutional mismatch repair deficiency syndrome (MLH1, MSH2, MSH6, and PMS2 genes)

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Last update: December 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (4)
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