Orphanet: Diagnostik des juvenilen Polyposis Syndroms BMPR1A und SMAD4 Gen
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Diagnosis of juvenile polyposis syndrome (BMPR1A and SMAD4 genes)

  • Institut für Humangenetik
  • Heinrich-Heine-Universität Düsseldorf
  • Universitätsstrasse 1
  • 40225 DÜSSELDORF
  • GERMANY
  • Director of laboratory : Pr Dagmar WIECZOREK
  • More information
  • Phone : 49 (0)211 811 2350
  • Additional Phone : -
  • Fax : 49 (0)211 811 2538
  • Website
Last update: September 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (2)

Additional information

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.