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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
  • GERMANY
  • 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

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)
Deletion / Duplication analysis
MLPA based techniques

Additional information

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.