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Diagnosis of cystic fibrosis (CFTR gene)

  • Laboratorio de Gentica
  • Servicio de Laboratorios Clnicos
  • Hospital Universitari Vall d'Hebron
  • Paseo Vall d'Hebron, 119-129
  • 08035 BARCELONA
  • Director of laboratory : Dr Elena GARCA-ARUM
  • More information
  • Phone : 34 934 893 000 ext. 6898
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: April 2020

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
PCR based techniques
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) (1)

Quality management


EQA scheme(s) organized by CF Network

CF (Cystic fibrosis)
2015, 2016, 2017, 2018, 2019
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.