Orphanet: Diagnostik des Pyruvat Dehydrogenase Mangels DLD , PDHA1 und PDHB Gen: Sequenzierung

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Diagnosis of pyruvate dehydrogenase deficiency (DLD, PDHA1 and PDHB genes: sequencing)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 04/03/2013
  • Phone : 49 (0)7071 565 44 55
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  • Fax : 49 (0)7071 565 44 22
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Last update: March 2013

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 genes tested (including panels) (3)

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.