CSTB - progressive myoclonic epilepsy type 1A (Unverricht en Lundborg)

This test is available for the following conditions:

  • Conditions > Neurological > Epilepsy, myoclonic

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
  • 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: 601145
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336

Gene

CSTB - progressive myoclonic epilepsy type 1A (Unverricht en Lundborg)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

CSTB - progressive myoclonic epilepsy type 1A (Unverricht en Lundborg)



€ 336
Gene

GOSR2 - progressive myoclonus epilepsy with early ataxia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

GOSR2 - progressive myoclonus epilepsy with early ataxia



€ 377

GOSR2 - progressive myoclonus epilepsy with early ataxia

This test is available for the following conditions:

  • Conditions > Neurological > Epilepsy, myoclonic

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Epilepsy panel
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 604027
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377