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Molecular genetic diagnosis of Beckwith-Wiedmann and Silver-Russel syndromes: deletion/duplication analysis by MLPA, MS-MLPA and prenatal testing)

  • Servio de Gentica
  • Laboratrio de Anlises Clnicas Dr. Joaquim Chaves
  • Av. General Norton de Matos, 71 R/C, Miraflores - Algs
  • 1495-148 OEIRAS
  • PORTUGAL
  • Director of laboratory : Dr Joaquim CHAVES
  • More information
  • Phone : 351 214 124 331
  • Additional Phone : 351 214 124 356
  • Fax : 351 214 124 317
  • Website
  • Contact
Last update: September 2014

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis

Technical procedure(s)

Molecular genetics
Uniparental disomy study
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Deletion / Duplication analysis
MLPA based techniques
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