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
  • ITALY
  • 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

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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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) (6)
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.