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Diagnosis of overgrowth syndrome (panel)

  • Servicio de Laboratorio
  • Servicio de Medicina Gentica y Molecular
  • Hospital Sant Joan de Du Barcelona
  • Paseo de Sant Joan de Du, 2
  • 08950 ESPLUGUES DE LLOBREGAT
  • SPAIN
  • Director of laboratory : Dr Bonaventura RUIZ MONTASELL
  • More information
  • Phone : 34 93 253 21 00
  • Additional Phone : -
  • Fax : -
  • Website
Last update: December 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
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 (69)
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.