Orphanet: Diagnóstico del síndrome de Noonan y trastornos relacionados panel de genes
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Diagnosis of Noonan syndrome and Noonan-related disorders (panel)

  • Unidad de Genmica Clnica
  • Servicio de Gentica
  • Hospital Germans Trias I Pujol
  • Carretera de Canyet, s/n
  • 08916 BADALONA
  • SPAIN
  • Director of laboratory : Dr Ignacio BLANCO
  • More information
  • Phone : 34 93 033 05 16
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: December 2020

Responsible of diagnostic test

Purpose(s)

Pre-implantation diagnosis
Post-natal diagnosis
Somatic genetics

Technical procedure(s)

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