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Diagnosis of Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

  • Phone : 34 985 10 61 00 ext 37482
  • Additional Phone : -
  • Fax : 34 985 27 36 57
  • Website
Last update: March 2017

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Uniparental disomy study
Microsatellite analysis
Methylation analysis
MLPA based techniques

List of diseases and genes

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

11p-Imprinting disorders (BWS/SRS)
2016
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