Orphanet: Diagnostik der familiären juvenilen Polyposis BMPR1A und SMAD4 Gen: Sequenzierung, MLPA

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Diagnosis of familial juvenile polyposis (BMPR1A and SMAD4 genes: sequencing, MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 21/03/2003
  • 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: March 2003

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 genes tested (including panels) (2)
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