TMEM70 - Mitochondrial complex V (and complex I) deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Complex I deficiency
  • Conditions > Mitochondrial disorders > Complex V deficiency

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Liver disorders panel
  • 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: 612418
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

ATPAF2 - Mitochondrial complex V deficiency

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

ATPAF2 - Mitochondrial complex V deficiency



€ 725

ATPAF2 - Mitochondrial complex V deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Complex V deficiency

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • 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: 608918
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TMEM70 - Mitochondrial complex V (and complex I) deficiency

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

TMEM70 - Mitochondrial complex V (and complex I) deficiency



€ 725