Gene

SLC19A3 - thiamine metabolism dysfunction syndrome type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc & Maastricht UMC+
€ 369

SLC19A3 - thiamine metabolism dysfunction syndrome type 2



€ 369

SLC19A3 - thiamine metabolism dysfunction syndrome type 2

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Thiamine metabolism dysfunction syndrome
  • Conditions > Neurological > Thiamine metabolism dysfunction syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Epilepsy panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Movement 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: 606152
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369