Orphanet: Diagnóstico molecular do cancro colorectal hereditário sem polipose genes MLH1, MSH2, MLH3, MSH6, BMPR1 e PMS2: Sequenciação de toda a região codificante para os genes MLH1, MSH2, MLH3, MSH6 e BMPR1 e análise de deleçãoduplicação por MLPA para os genes MLH1, MSH2, MSH6 e PMS2

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Molecular diagnosis of hereditary nonpolyposis colorectal cancer (MLH1, MSH2, MLH3, MSH6, BMPR1 and PMS2 genes: Sequencing of the entire coding region for MLH1, MSH2, MLH3, MSH6, BMPR1 genes and deletion/duplication analysis by MLPA for MLH1, MSH2, MSH6 and PMS2 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 07/07/2014
  • CGC Genetics / Centro de Gentica Clnica
  • CGC Genetics / Centro de Gentica Clnica
  • Rua de S da Bandeira 706, 1
  • 4000-432 PORTO
  • Director of laboratory : Dr Jorge PINTO BASTO
  • More information
  • Phone : 351 223 389 900
  • Additional Phone : -
  • Fax : 351 222 088 710
  • Website
  • Contact
Last update: July 2014

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (6)
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.