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Diagnosis of Rubinstein-Taybi syndrome (CREBBP, EP300 genes)

  • Abteilung Molekulargenetik
  • Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
  • Lochhamer Str. 29
  • 82152 MARTINSRIED
  • GERMANY
  • Director of laboratory : Dr Imma ROST
  • More information
  • Phone : 49 (0)89 89 55 78 0
  • Additional Phone : -
  • Fax : 49 (0)89 89 55 78 780
  • Website
  • Contact
Last update: July 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (2)
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.