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Diagnosis of congenital heart malformations (Panel)

  • Laboratoire cardiogntique - Malformations cardiaques congnitales
  • Centre de Biologie et Pathologie Est
  • CHU de Lyon HCL - GH Est
  • 59 Boulevard Pinel
  • 69677 BRON CEDEX
  • FRANCE
  • Director of laboratory : Dr Patrice BOUVAGNET
  • More information
  • Phone : 33 (0)4 72 12 95 87
  • Additional Phone : -
  • Fax : 33 (0)4 27 85 59 00
  • Contact
Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Newborn screening

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (60)
List of genes tested (including panels) (477)
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.