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Molecular diagnosis of Rubinstein-Taybi syndrome (CREBBP, EP300 genes / entire coding sequence, MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 09/08/2013
  • Laboratorio de Gentica y Biopatologa Molecular
  • Centro Inmunolgico de Alicante (CIALAB)
  • Cristo de la Paz, 36-38 B
  • 03550 SANT JOAN D'ALACANT
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 965943133
  • Additional Phone : -
  • Fax : 34 965943264
  • Website
  • Contact
Last update: August 2013

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
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MLPA based techniques
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List of diseases and genes

List of diseases tested (1)
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.