Orphanet: Diagnóstico de la telangiectasia hemorrágica hereditaria panel
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Diagnosis of hereditary hemorrhagic telangiectasia (panel)

  • Unidad de Gentica
  • Hospital Universitario y Politcnico La Fe
  • Avenida de Fernando Abril Martorell 106
  • 46026 VALENCIA
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 961 244 666
  • Additional Phone : -
  • Fax : -
  • Website
Last update: October 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (8)
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