Orphanet: Diagnosi delle malattie associate al gene COL2A1

Search for a diagnostic test

* (*) mandatory field

Diagnosis of COL2A1 gene associated diseases

  • Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
  • Dipartimento Patologie Ortopediche-Traumatologiche Specialistiche
  • Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
  • Via di Barbiano 1/10
  • 40136 BOLOGNA
  • Director of laboratory : Dr Luca SANGIORGI
  • More information
  • Phone : 39 051 6366039
  • Additional Phone : -
  • Fax : 39 051 6366039
  • Website
  • Contact
Last update: September 2020

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis
Newborn screening

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
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
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.