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Molecular diagnosis of Silver-Russell syndrome (CDKN1C, H19, IGF2 genes)

  • Institut für Humangenetik
  • Universitätsklinikum Aachen
  • Pauwelsstr. 30
  • 52074 AACHEN
  • GERMANY
  • Director of laboratory : Pr Ingo KURTH
  • More information
  • Phone : 49 (0)241 80 80178
  • Additional Phone : -
  • Fax : 49 (0)241 80 82580
  • Website
  • Contact
Last update: September 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Methylation analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)
Deletion / Duplication analysis
Array based techniques
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