Orphanet: Diagnostik des Myhre Syndroms SMAD4 Gen

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Diagnosis of Myhre syndrome (SMAD4 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 07/03/2017
  • Institut für Klinische Genetik
  • Klinikum Stuttgart - Standort Olgahospital
  • Kriegsbergstraße 62
  • 70174 STUTTGART
  • Director of laboratory : Dr Martina WÖLFLE
  • More information
  • Phone : 49 (0)711 278 74 001
  • Additional Phone : -
  • Fax : 49 (0)711 278 74 000
  • Website
Last update: March 2017

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)

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.