Orphanet: Diagnosi biochimica e molecolare del deficit di piruvato deidrogenasi geni DLAT, DLD, PDHA1, PDHB, PDHX, PDP1

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Biochemical and molecular diagnosis of pyruvate dehydrogenase deficiency (DLAT, DLD, PDHA1, PDHB, PDHX, PDP1 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 02/05/2012
  • U.O.C. di Patologia Metabolica
  • Dipartimento di Medicina Pediatrica
  • IRCCS Ospedale Pediatrico Bambino Ges¨ - SEDE SAN PAOLO
  • Viale di San Paolo 15
  • 00146 ROMA RM
  • Director of laboratory : -
  • More information
  • Phone : 39 06 68592275
  • Additional Phone : -
  • Fax : 39 06 68592791
  • Website
  • Contact
Last update: May 2012

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Biochemical genetics
Analyte / Enzyme assay

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (6)
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