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
  • 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


Post-natal diagnosis
Somatic genetics

Technical procedure(s)

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

List of diseases and genes

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