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Diagnosis of peroxisome biogenesis disorder (PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6 genes)

  • Centro de Diagnstico de Enfermedades Moleculares
  • Universidad Autnoma de Madrid. Facultad de Ciencias
  • Calle Francisco Toms y Valiente, 7
  • Director of laboratory : Pr Magdalena UGARTE PREZ
  • More information
  • Phone : 34 914974589
  • Additional Phone : 34 914974868
  • Fax : 34 914974863
  • Website
Last update: April 2019

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Biochemical genetics
Analyte / Enzyme assay

List of diseases and genes

List of genes tested (including panels) (13)
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