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:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (89.5% **)
  • WES Mendelian inherited disorders (89.5% **)
  • WES metabolic disorders (89.5% **)
  • WES mitochondrial disorders (89.5% **)
  • WES vision disorders (89.5% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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

Gene

ACO2 - Mitochondrial aconitase deficiency - Infantile cerebellar-retinal degeneration

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

ACO2 - Mitochondrial aconitase deficiency - Infantile cerebellar-retinal degeneration



€ 725