Orphanet: Diagnosi delle patologie associate al gene SUFU

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Diagnosis of SUFU-related diseases

  • UnitÓ di Genetica Medica
  • Mauro Baschirotto Institute for Rare Diseases
  • B.I.R.D. Foundation
  • Via Bartolomeo Bizio 1
  • Director of laboratory : Dr Uros HLADNIK
  • More information
  • Phone : 39 0444 555557
  • Additional Phone : -
  • Fax : 39 0444 555034
  • Website
  • Contact
Last update: March 2019

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)
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