DLD - Branched chain alpha-keto acid dehydrogenase complex- E3 component

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Dihydrolipoamide dehydrogenase

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)
  • WES metabolic disorders (99.7% **)
  • WES mitochondrial disorders (99.7% **)
  • WES movement disorders (99.7% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 238331
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

DLD - Branched chain alpha-keto acid dehydrogenase complex- E3 component

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

DLD - Branched chain alpha-keto acid dehydrogenase complex- E3 component



€ 725