Orphanet: Diagnosi della poliposi giovanile geni SMAD4, BMPR1A
x

Search for a diagnostic test

* (*) mandatory field

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
  • ITALY
  • 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

Purpose(s)

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)
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.