Orphanet: Diagnosi della poliposi giovanile geni SMAD4, BMPR1A

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Diagnosis of juvenile polyposis (SMAD4, BMPR1A genes)

  • Laboratorio di Genetica dei Tumori Rari
  • Dipartimento di Medicina Interna e SpecialitÓ Mediche
  • IRCCS AOU San Martino - IST - DIMI
  • Viale Benedetto XV 6
  • 16132 GENOVA
  • Director of laboratory : Pr Paola GHIORZO
  • More information
  • Phone : +39 010 5557255
  • Additional Phone : + 39 010 3538949
  • Fax : -
  • Website
Last update: October 2019

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)
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