TPK1 - Thiamine metabolism dysfunction syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Thiamine metabolism dysfunction syndrome

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (98.7% **)
  • WES metabolic disorders (98.7% **)
  • WES mitochondrial disorders (98.7% **)

** % 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: 606370
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

TPK1 - Thiamine metabolism dysfunction syndrome

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

TPK1 - Thiamine metabolism dysfunction syndrome



€ 725