Orphanet: Diagnostic du d�ficit en pyruvate d�shydrog�nase g�nes DLAT, PDHA1, PDHB, PDHX, DLD et PDP1
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Diagnosis of pyruvate dehydrogenase deficiency (DLAT, PDHA1, PDHB, PDHX, DLD and PDP1 genes)

  • Laboratoire de biochimie
  • Ple BPP
  • CHU Paris-Sud - Hpital de Bictre
  • 78 rue du Gnral Leclerc
  • 94270 LE KREMLIN-BICTRE
  • FRANCE
  • Director of laboratory : Pr Patrice THEROND
  • More information
  • Phone : 33 (0)1 45 21 26 05
  • Additional Phone : -
  • Fax : 33 (0)1 45 21 35 74
Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
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) (6)
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