NFU1 - Multiple mitochondrial dysfunctions syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Multiple mitochondrial dysfunctions syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability 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: 608100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

BOLA3 - Multiple mitochondrial dysfunctions syndrome with hyperglycinemia

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

BOLA3 - Multiple mitochondrial dysfunctions syndrome with hyperglycinemia



€ 725

BOLA3 - Multiple mitochondrial dysfunctions syndrome with hyperglycinemia

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Multiple mitochondrial dysfunctions 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

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

Method

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

OMIM: 613183
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NFU1 - Multiple mitochondrial dysfunctions syndrome

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

NFU1 - Multiple mitochondrial dysfunctions syndrome



€ 725