Orphanet: Diagn�stico de la condrodisplasia punctata tipo rizom�lico genes PEX7, AGPS, GNPAT
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Diagnosis of chondrodysplasia punctata rhizomelic form (PEX7, AGPS, GNPAT genes)

  • Seccin de Errores Congnitos del Metabolismo
  • Centro de Diagnstico Biomdico
  • Hospital Clnic de Barcelona
  • Calle Villarroel, 170
  • 08036 BARCELONA
  • SPAIN
  • Director of laboratory : Dr Judit GARCA VILLORIA
  • More information
  • Phone : 34 932 275 672
  • Additional Phone : -
  • Fax : 34 932 275 668
  • Website
Last update: November 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Somatic genetics

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Biochemical genetics
Analyte / Enzyme assay
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List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (3)
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