Orphanet: Diagn�stico molecular de la enfermedad de Krabbe gen GALC secuenciaci�n completa, detecci�n de la deleci�n de 502Tdel
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Diagnosis of Krabbe disease (GALC gene)

  • Instituto de Medicina Genmica
  • IMEGEN - Delegacin Valencia
  • Calle Catedrtico Agustn Escardino, 9
  • 46980 PATERNA
  • SPAIN
  • Director of laboratory : Dr Juan LPEZ SILES
  • More information
  • Phone : 34 963212340
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: March 2020

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)
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