Orphanet: Diagnostik des nicht polypösen familiären Kolonkarzinoms Gene: EPCAM, MLH1, MSH2, MSH6, PMS2: Sequenzierung MLPA

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Diagnosis of familial nonpolyposis colon cancer (EPCAM, MLH1, MSH2, MSH6, PMS2 genes: sequencing / MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 25/01/2016
  • Praxis fr Humangenetik und Prvention - Onkogenetische Schwerpunktpraxis
  • Praxis fr Humangenetik und Prvention
  • Reinsburgstr. 13
  • 70178 STUTTGART
  • Director of laboratory : Dr Charlotte SINGRN
  • More information
  • Phone : 49 (0)711 231 99 040
  • Additional Phone : -
  • Fax : 49 (0)711 231 99 049
  • Website
  • Contact
Last update: January 2016

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) (5)

Quality management


EQA scheme(s) organized by EMQN

HNPCC (Hereditary non-polyposis colon cancer)
2016, 2017, 2018
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