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:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Mitochondrial disorders panel

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