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Molecular diagnosis of Marfan syndrome and related diseases (FBN1, SMAD3, TGFB2, TGFBR1, TGFBR2 genes)

  • Institut für Humangenetik
  • Zentrum Pathologie, Forensik und Genetik
  • Medizinische Hochschule Hannover
  • Carl-Neuberg-Str. 1
  • 30625 HANNOVER
  • Director of laboratory : Pr Brigitte SCHLEGELBERGER
  • More information
  • Phone : 49 (0)511 532 4520
  • Additional Phone : -
  • Fax : 49 (0)511 532 4521
  • Website
  • Contact
Last update: June 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

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

Additional information

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