Orphanet: Diagnóstico del síndrome de Lynch genes MLH1, MSH2, MSH6, PMS2, KRAS
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Diagnosis of Lynch syndrome (MLH1, MSH2, MSH6, PMS2, KRAS genes)

  • Phone : 34 937 31 00 07
  • Additional Phone : -
  • Fax : 34 937 31 90 45
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Last update: August 2017

Purpose(s)

Post-natal diagnosis
Somatic genetics

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques
Sequence analysis: entire coding region
NGS sequencing (except WES)
Methylation analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (5)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

HNPCC (Hereditary non-polyposis colon cancer)
2017
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