ACO2 - Mitochondrial aconitase deficiency - Infantile cerebellar-retinal degeneration

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Aconitase deficiency

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
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Movement disorders panel
  • Vision 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: 100850
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 725
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Gene

ACO2 - Mitochondrial aconitase deficiency - Infantile cerebellar-retinal degeneration

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

ACO2 - Mitochondrial aconitase deficiency - Infantile cerebellar-retinal degeneration


€ 725
Add