Gene

ECHS1 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

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

ECHS1 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency



€ 725

ECHS1 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

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
  • Metabolic disorders panel
  • Mitochondrial disorders panel
  • Movement 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: 602292
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725