Orphanet: Diagnóstico de la enfermedad de Thomsen y Becker gen CLCN1
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Diagnosis of Thomsen and Becker disease (CLCN1 gene)

  • Instituto de Medicina Genmica
  • IMEGEN - Delegacin Mlaga
  • Avenida de Andaluca 27, edificio Jbega IV, locales 2 y 3
  • 29006 MLAGA
  • SPAIN
  • Director of laboratory : Dr Juan LPEZ SILES
  • More information
  • Phone : 34 95 265 76 05
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: July 2017

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic 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

List of diseases and genes

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