Gene

DARS - Hypomyelination with brainstem and spinal cord involvement and leg spasticity

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

DARS - Hypomyelination with brainstem and spinal cord involvement and leg spasticity



€ 725

DARS - Hypomyelination with brainstem and spinal cord involvement and leg spasticity

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Hypomyelination

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

Method

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

OMIM: 603084
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

SLC25A12 - Hypomyelination- global cerebral

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

SLC25A12 - Hypomyelination- global cerebral



€ 725

SLC25A12 - Hypomyelination- global cerebral

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Hypomyelination

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: 603667
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725