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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of congenital heart malformations (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing