FBXL4 - Mitochondrial DNA depletion syndrome

This test is available for the following conditions:

  • Conditions > Complement-mediated diseases > Properdin deficiency

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability / developmental delay panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 605654
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

FBXL4 - Mitochondrial DNA depletion syndrome

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

FBXL4 - Mitochondrial DNA depletion syndrome



€ 725