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Molecular diagnosis of Silver-Russell and Beckwith-Wiedemann syndrome (MS-MLPA: imprinting defects at 11p15; maternal UPD7)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 22/02/2013
  • Laboratory of molecular genetics
  • Department of Medical Genetics
  • Instytut "Pomnik-Centrum Zdrowia Dziecka"
  • Al. Dzieci Polskich 20
  • 04 -730 WARSAW
  • POLAND
  • Director of laboratory : Dr Elzbieta CIARA
  • More information
  • Phone : 48 22 815 74 52
  • Additional Phone : 48 22 815 72 64
  • Fax : 48 22 815 74 57
  • Website
  • Contact
Last update: February 2013

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Uniparental disomy study
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MLPA based techniques

Quality management

EQA
 EQA

EQA scheme(s) organized by ACCREDIA

BWS Beckwith-Wiedemann syndrome (Pilot)
2015
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.