Orphanet: Diagn�stico de la displasia �sea primaria panel
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Diagnosis of primary bone dysplasia (panel)

  • Laboratorio de Gentica y Biopatologa Molecular
  • Centro Inmunolgico de Alicante (CIALAB)
  • Cristo de la Paz, 36-38 B
  • 03550 SANT JOAN D'ALACANT
  • SPAIN
  • Director of laboratory : Dr Noem GARRIGS GMEZ
  • More information
  • Phone : 34 965943133
  • Additional Phone : -
  • Fax : 34 965943264
  • Website
  • Contact
Last update: June 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (52)
List of genes tested (including panels) (17)
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