Orphanet: Diagnostik des Pyruvat Dehydrogenase Mangels Gene: DLAT, DLD, PDHA1, PDHB, PDHX, PDP1

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Diagnosis of pyruvate dehydrogenase (PD) 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 05/05/2011
  • Institut für Klinische Chemie, Molekulare Diagnostik und Mitochondriale Genetik
  • Zentrum für Mitochondriale Stoffwechseldiagnostik München-Schwabing
  • Klinikum Schwabing, Städt. Klinikum GmbH
  • Kölner Platz 1
  • 80804 MÜNCHEN
  • Director of laboratory : Dr Boris ROLINSKI
  • More information
  • Phone : 49 (0)89 3068 2670
  • Additional Phone : 49 (0)89 3068 2750
  • Fax : 49 (0)89 3068 3911
  • Website
Last update: May 2011

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

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

Additional information

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.